FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Roberto Giugliani

Research Profile

Geographic Areas

Brazil

Disorders

Chemicals & Drugs

Physiology

Living Beings

Procedures

Concepts & Ideas

Co-author Network

Publications

TOP 3
Guilherme Baldo; Talita G de Carvalho; Patrícia G de Oliveira; Bárbara Z Martinelli; Ursula Matte; Fabiana Q Mayer; Luise Meurer; Fabiola S Meyer; Angela Tavares; Roberto Giugliani
Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice.
Roberto Giugliani; K Nicholls; J K Simosky; S Waldek; Elfrida R Benjamin; D G Bichet; A C Bragat; J P Castelli; D P Germain; P F Boudes
A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects.
Paul Harmatz; Chris Hendriksz; Carla Hollak; Simon Jones; Shuan-Pei Lin; Ana Martins; Karl Eugen Mengel; John Mitchell; Rossella Parini; Peter Slasor; Vassili Valayannopoulos; Ashok Vellodi; Barbara K Burton; Roberto Giugliani; Norberto Guelbert; Nathalie Guffon; Celeste Decker
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Roberto Giugliani (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Guilherme Baldo; Talita G de Carvalho; Patrícia G de Oliveira; Bárbara Z Martinelli; Ursula Matte; Fabiana Q Mayer; Luise Meurer; Fabiola S Meyer; Angela Tavares; Roberto Giugliani
Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice.
Molecular genetics and metabolism 2013;109(1):33-40.
2013: Roberto Giugliani; K Nicholls; J K Simosky; S Waldek; Elfrida R Benjamin; D G Bichet; A C Bragat; J P Castelli; D P Germain; P F Boudes
A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects.
Molecular genetics and metabolism 2013;109(1):86-92.
2013: Paul Harmatz; Chris Hendriksz; Carla Hollak; Simon Jones; Shuan-Pei Lin; Ana Martins; Karl Eugen Mengel; John Mitchell; Rossella Parini; Peter Slasor; Vassili Valayannopoulos; Ashok Vellodi; Barbara K Burton; Roberto Giugliani; Norberto Guelbert; Nathalie Guffon; Celeste Decker
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.
Molecular genetics and metabolism 2013;109(1):54-61.
2013: Gabriel Civallero; Jurema de Mari; Maira G Burin; M Viapiana Camelier; Roberto Giugliani
Assay of heparan-N-sulfamidase in dried leukocytes impregnated in filter paper: a new tool for the identification of mucopolisaccharidosis IIIA and potentially other lysosomal disorders.
Molecular genetics and metabolism 2013;108(4):267-8.
2013: Tim C Wood; Chunli Yu; Michael Beck; Maira G Burin; Yin-Hsiu Chien; Heather J Church; Vânia D'Almeida; Michael Fietz; Roberto Giugliani; Paul Harmatz; Katie Harvey; Sara M Hawley; Wuh-Liang Hwu; David Ketteridge; Zoltan Lukacs; Nicole Miller; Marzia Pasquali; Andrea Schenone; Jerry N Thompson; Karen Tylee; Otto P van Diggelen; Chris Hendriksz
Diagnosing mucopolysaccharidosis IVA.
Journal of inherited metabolic disease 2013;36(2):293-307.
2013: A C M M Azevedo; Roberto Giugliani; Márcia Komlós; Adriana Pires; Osvaldo Artigalás; Leonardo Vedolin; Ida V D Schwartz
Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI.
Journal of inherited metabolic disease 2013;36(2):357-62.
2013: Elizabeth Braunlin; C Decker; E Dias da Silva; G Gildengorin; Roberto Giugliani; Nathalie Guffon; Paul Harmatz; John J Hopwood; M Imperiale; J Johnson; C Kampmann; David Ketteridge; G Kurio; E Leão Teles; M Richardson; H Rosenfeld; C M Sá Miranda; MAURIZIO SCARPA; A Schatz; Ida V D Schwartz; James Wraith; P Barrios; Michael Beck
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy.
Journal of inherited metabolic disease 2013;36(2):385-94.
2013: Fabiana Quoos Mayer; Ida V D Schwartz; Osvaldo Alfonso Artigalas; Guilherme Baldo; Valeska Lizzi Lagranha; Ursula Matte; Roberto Giugliani
Chloramphenicol Enhances IDUA Activity on Fibroblasts from Mucopolysaccharidosis I Patients.
Current pharmaceutical biotechnology 2013;14(2):194-8.
2013: Gabriel Civallero; Jurema de Mari; F Bender; Maira G Burin; A Gomes; R Guidobono; G Marasca; Roberto Giugliani
Reliable detection of mucopolysacchariduria in dried-urine filter paper samples.
Clinica chimica acta; international journal of clinical chemistry 2013;415():334-6.
2013: Marina Siebert; Hugo Bock; Janice C Coelho; Roberto Giugliani; Kristiane Michelin-Tirelli; Maria Luiza Saraiva Pereira
Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.
JIMD reports 2013;9():7-16.
2013: Valeska Lizzi Lagranha; Talita Giacomet de Carvalho; Roberto Giugliani; Ursula Matte
Treatment of MPS I mice with microencapsulated cells overexpressing IDUA: effect of the prednisolone administration.
Journal of microencapsulation 2013;30(4):383-9.
2013: Fernanda Sperb; Filippo Vairo; Maira G Burin; Ursula Matte; Fabiana Quoos Mayer; Roberto Giugliani
Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.
Gene 2013;512(1):113-6.
2013: Taiane Alves Vieira; Júlio César Loguercio Leite; Maria Lúcia Medeiros Lenz; Maria Verónica Muñoz-Rojas; Osvaldo Alfonso Pinto Artigalás; Larissa Pozzebon da Silva; Lavínia Schuler Faccini; Camila Giugliani; Roberto Giugliani
Inclusion of medical genetics in primary health care: report of a pilot project in Brazil.
Journal of community genetics 2013;4(1):137-45.
2012: Roberto Giugliani
Mucopolysacccharidoses: From understanding to treatment, a century of discoveries.
Genetics and molecular biology 2012;35(4 (suppl)):924-31.
2012: J Giacomazzi; Roberto Giugliani; Edenir Inez Palmero; Maria Luiza Saraiva Pereira; A V Schmidt; Lavinia Schuler-Faccini; G Skonieski; H Bock; M Caleffi; S A Camey; I P Ewald; D D Filho; E Aguiar; Patricia Ashton-Prolla
Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 2012;45(10):891-7.
2012: Liliane Todeschini de Souza; Ana Paula Vanz; Roberto Giugliani; Thayne Woycinck Kowalski; Têmis Maria Félix
TGFA/Taq I polymorphism and environmental factors in non-syndromic oral clefts in Southern Brazil.
Brazilian oral research 2012;26(5):431-5.
2012: Laura Alencastro de Azevedo; Clarissa Gutierrez Carvalho; Roberto Giugliani; Simone Martins de Castro; Themis Reverbel da Silveira; Ursula Matte
UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?
Pediatric research 2012;72(2):169-73.
2012: Guilherme Baldo; Maira G Burin; Roberto Giugliani; Barbara Martinelli; Fabiana Quoos Mayer; Luise Meurer; Fabiola Schons Meyer; Angela Maria Vicente Tavares; Ursula Matte
Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-L-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice.
Cytotherapy 2012;14(7):860-7.
2012: Guilherme Baldo; Anna Dilda; Roberto Giugliani; Barbara Martinelli; Fabiana Quoos Mayer; Fabiola Meyer; Katherine P Ponder; Ursula Matte
Evidence of a progressive motor dysfunction in Mucopolysaccharidosis type I mice.
Behavioural brain research 2012;233(1):169-75.
2012: Ernestina Silva de Aguiar; Pollyanna Almeida Costa dos Santos; Hugo Bock; Maira Caleffi; Suzi Alves Camey; Dakir Duarte Filho; Juliana Giacomazzi; Roberto Giugliani; Maria Luiza Saraiva Pereira; Aishameriane Venes Schmidt; Lavinia Schuler-Faccini; Patricia Ashton-Prolla
GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submitted to breast cancer screening.
Revista brasileira de epidemiologia = Brazilian journal of epidemiology 2012;15(2):246-55.
2012: Ana Carolina Brusius-Facchin; Patrícia Correia; Carolina Fischinger Moura De Souza; Roberto Giugliani; Juan Llerena; Maria Isabel Melaragno; Lúcia Marques Moraes; Mariluce Riegel; Ida V D Schwartz; Sandra Leistner-Segal
Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.
American journal of medical genetics. Part A 2012;158A(5):1055-9.
2012: T Wood; Olaf Bodamer; M G Burin; V D'Almeida; M Fietz; Roberto Giugliani; S M Hawley; C J Hendriksz; W L Hwu; David Ketteridge; Zoltan Lukacs; N J Mendelsohn; N Miller; M Pasquali; A Schenone; K Schoonderwoerd; B Winchester; Paul Harmatz
Expert recommendations for the laboratory diagnosis of MPS VI.
Molecular genetics and metabolism 2012;106(1):73-82.
2012: A C Burlamaque-Neto; Jose Roberto Goldim; L M Lisbôa; C L B Machado; Ursula Matte; G R Santos; Roberto Giugliani
Study of the comprehension of the scientific method by members of a university health research laboratory.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 2012;45(2):93-6.
2012: C R D C Quaio; M L C Vieira; G N Leal; Sandra Leistner-Segal; A C Paula; Débora R Bertola; Roberto Giugliani; I Gomy; H Grinberg; Chong A Kim
Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II).
JIMD reports 2012;4():125-8.
2012: Bruno Duarte Gomes; Diane Marinho; Ida V D Schwartz; Luiz Carlos de Lima Silveira; Givago da Silva Souza; Gustavo Monteiro Viana; Isabel Cristina Neves de Souza; Patricia do Socorro Queiroz Feio; Manoel da Silva Filho; Roberto Giugliani; Luiz Carlos Santana da Silva
Visual Dysfunction of Type I and VI Mucopolysaccharidosis Patients Evaluated with Visual Evoked Cortical Potential.
Case reports in ophthalmology 2012;3(1):104-12.
2012: Guilherme Baldo; Maira G Burin; Joaquín Carrillo-Farga; Ursula Matte; Fabiana Quoos Mayer; Roberto Giugliani
Recombinant encapsulated cells overexpressing alpha-L-iduronidase correct enzyme deficiency in human mucopolysaccharidosis type I cells.
Cells, tissues, organs 2012;195(4):323-9.
2011: Fabiana Moura Costa-Motta; Roberto Giugliani; Kiyoko Abé-Sandes; Angelina Xavier Acosta; Fernanda Bender; Ida V D Schwartz; Sandra Leistner-Segal
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil.
Molecular genetics and metabolism 2011;104(4):603-7.
2011: Ursula Matte; Fabiana Quoos Mayer; Talita Giacomet de Carvalho; Valeska Lizzi Lagranha; Roberto Giugliani
Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases.
Journal of inherited metabolic disease 2011;34(5):983-90.
2011: Marli V Camelier; Jurema de Mari; Giórgia Marasca; Taiane A Vieira; Maira G Burin; Roberto Giugliani
Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples.
Clinica chimica acta; international journal of clinical chemistry 2011;412(19-20):1805-8.
2011: Angela John; Sérgio Menna-Barreto; Ida Schwartz; A C M M Azevedo; Patrícia Barrios; Paulo Dalcin; Simone Fagondes; Roberto Giugliani
Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI.
American journal of medical genetics. Part A 2011;155A(7):1546-51.
2011: Roberto Giugliani; Clarissa Gutiérrez Carvalho; Silvani Herber; Louise Lapagesse de Camargo Pinto
Recent Advances in Treatment Approaches of Mucopolysaccharidosis VI.
Current pharmaceutical biotechnology 2011;12(6):956-62.
2011: Guilherme Baldo; Ursula Matte; Osvaldo Artigalas; Ida V D Schwartz; Maira G Burin; Erlane Ribeiro; Dafne Horovitz; Tatiana Pacheco Magalhaes; Milan Elleder; Roberto Giugliani
Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI.
Molecular genetics and metabolism 2011;103(2):197-8.
2011: Letícia Filippon; Camila S Vanzin; Giovana B Biancini; Izabela N Pereira; Vanusa Manfredini; Angela Sitta; Maria do Carmo R Peralba; Ida V D Schwartz; Roberto Giugliani; Carmen R Vargas
Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy.
Molecular genetics and metabolism 2011;103(2):121-7.
2011: Letícia Filippon; Carlos A Y Wayhs; Diana M Atik; Vanusa Manfredini; Silvani Herber; Clarissa G Carvalho; Ida V D Schwartz; Roberto Giugliani; Carmen R Vargas
DNA damage in leukocytes from pretreatment mucopolysaccharidosis type II patients; protective effect of enzyme replacement therapy.
Mutation research 2011;721(2):206-10.
2011: Clarissa Gutiérrez Carvalho; Felipe Gutiérrez Carvalho; Simone Martins Castro; Ana Paula Santin; Carina Zaleski; Roberto Giugliani
Glucose-6-phosphate-dehydrogenase deficiency and its correlation with other risk factors in jaundiced newborns in Southern Brazil.
Asian Pacific journal of tropical biomedicine 2011;1(2):110-3.
2011: J Giacomazzi; E Aguiar; Edenir Inez Palmero; A V Schmidt; G Skonieski; D Duarte Filho; H Bock; Maria Luiza Saraiva Pereira; Lavinia Schuler-Faccini; S A Camey; M Caleffi; Roberto Giugliani; Patricia Ashton-Prolla
Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 2011;44(4):291-6.
2011: Ingrid P Ewald; Roberto Giugliani; Sara Hamaguchi; Patrícia Izetti; Patrícia Koehler-Santos; Aline S Moreira; Miguel Am Moreira; Carlos A Moreira-Filho; Aishameriane Schmidt; Fernando Regla Vargas; Maira Caleffi; Suzi A Camey; Danielle R Cunha; Patricia Ashton-Prolla
Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome.
Hereditary cancer in clinical practice 2011;9():12.
2011: Cléia Baiotto; Fernanda Sperb; Ursula Matte; Cláudia Dornelles da Silva; Renata Sano; Janice Carneiro Coelho; Roberto Giugliani
Population analysis of the GLB1 gene in South Brazil.
Genetics and molecular biology 2011;34(1):45-8.
2011: Ana Ayala-Lugo; Angela M V Tavares; Ana H R Paz; Ana Alegretti; Ludmila Miquelito; Hugo Bock; Roberto Giugliani; Nadine Clausell; Elizabeth Cirne-Lima; Luis E Rohde
Age-dependent availability and functionality of bone marrow stem cells in an experimental model of acute and chronic myocardial infarction.
Cell transplantation 2011;20(3):407-19.
2011: Louise Lapagesse de Camargo Pinto; Sharbel Weidner Maluf; Sandra Leistner-Segal; Camila Zimmer da Silva; Ana Brusius-Facchin; Maira G Burin; Silvia Brustolin; Juan Llerena; Lucia Moraes; Leonardo Vedolin; Alice Schuch; Roberto Giugliani; Ida V D Schwartz
Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations.
American journal of medical genetics. Part A 2011;155A(1):50-7.
2010: Guilherme Baldo; Roberto Giugliani; Carolina Uribe; Maria Cristina Belardinelli; Marcos Eugênio Soares Duarte; Luise Meurer; Themis Reverbel da Silveira; Ursula Matte
Bone marrow mononuclear cell transplantation improves survival and induces hepatocyte proliferation in rats after CCl(4) acute liver damage.
Digestive diseases and sciences 2010;55(12):3384-92.
2010: Clarissa Gutiérrez Carvalho; Simone Martins Castro; ana santin; Laura Alencastro de Azevedo; Maria Luiza Saraiva Pereira; Roberto Giugliani
Polymorphic variants of UGT1A1 in neonatal jaundice in southern Brazil.
Journal of tropical pediatrics 2010;56(5):366-7.
2010: L M J Albano; C Rivitti; Débora R Bertola; R S Honjo; S V Kelmann; Roberto Giugliani; C A Kim
Angiokeratoma: a cutaneous marker of Fabry's disease.
Clinical and experimental dermatology 2010;35(5):505-8.
2010: Fabiana Quoos Mayer; Guilherme Baldo; Talita Giacomet de Carvalho; Valeska Lizzi Lagranha; Roberto Giugliani; Ursula Matte
Effects of cryopreservation and hypothermic storage on cell viability and enzyme activity in recombinant encapsulated cells overexpressing alpha-L-iduronidase.
Artificial organs 2010;34(5):434-9.
2010: Marisete Bedin; Edson Moleta Colodel; Marli Viapiana; Ursula Matte; David Driemeier; Roberto Giugliani
Alpha-mannosidase activity in goats fed with Sida carpinifolia.
Experimental and toxicologic pathology : official journal of the Gesellschaft für Toxikologische Pathologie 2010;62(2):191-5.
2010: Laura Bannach Jardim; Andrew Chaves Feitosa da Silva; Deborah Blank; Maria Mercedes Villanueva; Luisa Renck; Mariana La Bella Costa; Carmen Regla Vargas; Marion Deon; Daniella M Coelho; Leonardo Vedolin; Cláudio Galvão de Castro; Lauro Gregianin; Carmem Bonfim; Roberto Giugliani
X-linked adrenoleukodystrophy: clinical course and minimal incidence in South Brazil.
Brain & development 2010;32(3):180-90.
2010: Paul Harmatz; Zi-Fan Yu; Roberto Giugliani; Ida Vanessa D Schwartz; Nathalie Guffon; Elisa Leão Teles; M. Clara Sá-Miranda; James Wraith; Michael Beck; Laila Arash; MAURIZIO SCARPA; David Ketteridge; John J Hopwood; Barbara Plecko; Robert D Steiner; Chester Whitley; Paige Kaplan; Stuart J Swiedler; Karen Hardy; Kenneth I Berger; Celeste Decker
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
Journal of inherited metabolic disease 2010;33(1):51-60.
2010: F T S Souza; L S Sostruznik; R C Scolari; K J M Castro; C V Andrade; Roberto Giugliani; Janice C Coelho
The effect of Mycoplasma and mycoplasma removal agent on the hydrolase activity in fibroblasts of patients with lysosomal diseases.
Revista Argentina de microbiología 2010;42(1):18-22.
2010: Paulo Fernandes Costa Jobim; Luciana Neves Nunes; Roberto Giugliani; Ivana Beatrice Manica da Cruz
[Is there an association between cancer mortality and agrotoxics use? A contribution to the debate].
Ciência & saúde coletiva 2010;15(1):277-88.
2010: S Brustolin; Roberto Giugliani; Têmis Maria Félix
Genetics of homocysteine metabolism and associated disorders.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 2010;43(1):1-7.
2009: Ida V D Schwartz; L L C Pinto; G Breda; L Lima; M G Ribeiro; J G Mota; A X Acosta; P Correia; D D G Horovitz; C G G Porciuncula; E Lipinski-Figueiredo; A C Fett-Conte; R P Oliveira Sobrinho; Denise Y J Norato; A C Paula; Chong A Kim; A R Duarte; Raquel Tavares Boy; Sandra Leistner-Segal; Maira G Burin; Roberto Giugliani
Clinical and biochemical studies in mucopolysaccharidosis type II carriers.
Journal of inherited metabolic disease 2009;32(6):732-8.
2009: José Simon Camelo; L Oliveira de Souza; Maria Inez Machado Fernandes; Roberto Giugliani; P Carvalho Leite; L M Z Maciel; C Souza Passador; D Ruffato Resende; J L Ferreira Santos; C A Scrideli; A S Camargo; Salim Moysés Jorge
Galactosaemia in a Brazilian population: high incidence and cost-benefit analysis.
Journal of inherited metabolic disease 2009;32 Suppl 1():S141-9.
2009: Edenir Inez Palmero; Maira Caleffi; Lavínia Schüler-Faccini; Fernanda L Roth; Luciane Kalakun; Cristina Brinkmann Oliveira Netto; Giovana Skonieski; Juliana Giacomazzi; Bernadete Weber; Roberto Giugliani; Suzi A Camey; Patricia Ashton-Prolla
Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil.
Genetics and molecular biology 2009;32(3):447-55.
2009: Ingrid Petroni Ewald; Patricia Lisboa Izetti Ribeiro; Edenir Inez Palmero; Silvia Liliana Cossio; Roberto Giugliani; Patricia Ashton-Prolla
Genomic rearrangements in BRCA1 and BRCA2: A literature review.
Genetics and molecular biology 2009;32(3):437-46.
2009: Ida V D Schwartz; Osvaldo Artigalás; Markus Ries; Joe T R Clarke; Roberto Giugliani; Michael Beck
Punctate calcifications in lysosomal storage disorders.
Clinical dysmorphology 2009;18(3):172-7.
2009: Marisete Bedin; Edson Moleta Colodel; Roberto Giugliani; Priscila Zlotwski; C E F Cruz; David Driemeier
Urinary oligosaccharides: a peripheral marker for Sida carpinifolia exposure or poisoning.
Toxicon : official journal of the International Society on Toxinology 2009;53(5):591-4.
2009: Alethéa G Barschak; Angela Sitta; Marion Deon; Estela N B Busanello; Daniella M Coelho; Franciele Cipriani; Carlos Severo Dutra-Filho; Roberto Giugliani; Moacir Wajner; Carmen R Vargas
Amino acids levels and lipid peroxidation in maple syrup urine disease patients.
Clinical biochemistry 2009;42(6):462-6.
2009: Moacir Wajner; Daniella de Moura Coelho; Rafaela Ingrassia; Anderson Büker de Oliveira; Estela Natacha Brandt Busanello; Kimiyo Raymond; Ricardo Flores Pires; Carolina Fischinger Moura de Souza; Roberto Giugliani; Carmen Regla Vargas
Selective screening for organic acidemias by urine organic acid GC-MS analysis in Brazil: fifteen-year experience.
Clinica chimica acta; international journal of clinical chemistry 2009;400(1-2):77-81.
2009: Scheila Thofehrn; Cristina Netto; Cláudia Cecchin; Maira G Burin; Ursula Matte; Sílvia Brustolin; Ane Cláudia Fernandes Nunes; Janice Coelho; Marylin Tsao; Laura B Jardim; Roberto Giugliani; Elvino Barros
Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.
Renal failure 2009;31(9):773-8.
2009: Patricia Ashton-Prolla; Juliana Giacomazzi; Aishameriane V Schmidt; Fernanda L Roth; Edenir I Palmero; Luciane Kalakun; Ernestina S Aguiar; Susana M Moreira; Erica Batassini; Vanessa Belo-Reyes; Lavinia Schuler-Faccini; Roberto Giugliani; Maira Caleffi; Suzi Alves Camey
Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care.
BMC cancer 2009;9():283.
2009: Fernanda Lenara Roth; Suzi Alves Camey; Maira Caleffi; Lavínia Schuler-Faccini; Edenir Inêz Palmero; Carla Bochi; Susana Mayer Moreira; Luciane Kalakun; Roberto Giugliani; Patrícia Ashton-Prolla
Consistency of self-reported first-degree family history of cancer in a population-based study.
Familial cancer 2009;8(3):195-202.
2008: Valeska Lizzi Lagranha; Guilherme Baldo; Talita Giacomet de Carvalho; Maira G Burin; Maria Luiza Saraiva Pereira; Ursula Matte; Roberto Giugliani
In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cells.
Metabolic brain disease 2008;23(4):469-84.
2008: Maria-Veronica Munoz-Rojas; Taiane Vieira; Ronaldo Costa; Simone Fagondes; Angela John; Laura Bannach Jardim; Leonardo M Vedolin; Marcia Raymundo; Patricia I Dickson; Emil Kakkis; Roberto Giugliani
Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression.
American journal of medical genetics. Part A 2008;146A(19):2538-44.
2008: Magda Lahorgue Nunes; Roberto Giugliani
Genetics: an essential tool for the pediatrician of the 21st century.
Jornal de pediatria 2008;84(4 Suppl):S1.
2008: Ida V D Schwartz; Carolina Fischinger Moura de Souza; Roberto Giugliani
Treatment of inborn errors of metabolism.
Jornal de pediatria 2008;84(4 Suppl):S8-19.
2008: Margaret M McGovern; Melissa P Wasserstein; Roberto Giugliani; Bruno Bembi; marie T vanier; Eugen Mengel; Scott E Brodie; David Mendelson; Gwen Skloot; Robert J Desnick; Noriko Kuriyama; Gerald F Cox
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.
Pediatrics 2008;122(2):e341-9.
2008: Paul Harmatz; Roberto Giugliani; Ida Vanessa D Schwartz; Nathalie Guffon; Elisa Leão Teles; M. Clara Sá-Miranda; James Wraith; Michael Beck; Laila Arash; MAURIZIO SCARPA; David Ketteridge; John J Hopwood; Barbara Plecko; Robert D Steiner; Chester Whitley; Paige Kaplan; Zi-Fan Yu; Stuart J Swiedler; Celeste Decker
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
Molecular genetics and metabolism 2008;94(4):469-75.
2008: James Wraith; Michael Beck; Roberto Giugliani; Joe Clarke; Rick Martin; Joseph Muenzer
Initial report from the Hunter Outcome Survey.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(7):508-16.
2008: Taiane Vieira; Ida Schwartz; Verónica Muñoz; Louise Pinto; Carlos Steiner; Márcia Ribeiro; Raquel Boy; Victor Ferraz; Ana de Paula; Chong Kim; Angelina Acosta; Roberto Giugliani
Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?
American journal of medical genetics. Part A 2008;146A(13):1741-7.
2008: Maria Cristina Belardinelli; Fernanda Pereira; Guilherme Baldo; Angela Maria Vicente Tavares; Carlos Oscar Kieling; Themis Reverbel da Silveira; Luise Meurer; Marcos Eugênio Soares Duarte; Roberto Giugliani; Ursula Matte
Adult derived mononuclear bone marrow cells improve survival in a model of acetaminophen-induced acute liver failure in rats.
Toxicology 2008;247(1):1-5.
2008: Liane Daudt; Rita Maccario; Franco Locatelli; Ilaria Turin; Lucia Silla; Enrica Montini; Elena Percivalle; Roberto Giugliani; Maria Antonietta Avanzini; Antonia Moretta; Daniela Montagna
Interleukin-15 favors the expansion of central memory CD8+ T cells in ex vivo generated, antileukemia human cytotoxic T lymphocyte lines.
Journal of immunotherapy (Hagerstown, Md. : 1997) 2008;31(4):385-93.
2008: Chelsea T Finn; Leonardo Vedolin; Ida V Schwartz; Roberto Giugliani; Charlotte A Haws; Andrew P Prescot; Perry F Renshaw
Magnetic resonance imaging findings in Hunter syndrome.
Acta paediatrica (Oslo, Norway : 1992). Supplement 2008;97(457):61-8.
2008: Marion Deon; Angela Sitta; Alethéa G Barschak; Daniella M Coelho; Thatiana Terroso; Graziela O Schmitt; Hector Y C Wanderley; Laura B Jardim; Roberto Giugliani; Moacir Wajner; Carmen R Vargas
Oxidative stress is induced in female carriers of X-linked adrenoleukodystrophy.
Journal of the neurological sciences 2008;266(1-2):79-83.
2008: Edenir Inez Palmero; Lavínia Schüler-Faccini; Maira Caleffi; Maria Isabel Waddington Achatz; Magali Olivier; Ghyslaine Martel-Planche; virginie marcel; Ernestina Aguiar; Juliana Giacomazzi; Ingrid Petroni Ewald; Roberto Giugliani; Pierre Hainaut; Patricia Ashton-Prolla
Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil.
Cancer letters 2008;261(1):21-5.
2008: Antonio Cardoso-Santos; Ana C M M Azevedo; Simone Fagondes; Maira G Burin; Roberto Giugliani; Ida V D Schwartz
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength.
Jornal de pediatria 2008;84(2):130-5.
2008: Alethéa G Barschak; Christiane Marchesan; Angela Sitta; Marion Deon; Roberto Giugliani; Moacir Wajner; Carmen R Vargas
Maple syrup urine disease in treated patients: biochemical and oxidative stress profiles.
Clinical biochemistry 2008;41(4-5):317-24.
2008: Marion Deon; Mariana Pires Garcia; Angela Sitta; Alethéa G Barschak; Daniella M Coelho; Graziela O Schimit; Maiara Pigatto; Laura B Jardim; Moacir Wajner; Roberto Giugliani; Carmen R Vargas
Hexacosanoic and docosanoic acids plasma levels in patients with cerebral childhood and asymptomatic X-linked adrenoleukodystrophy: Lorenzo's oil effect.
Metabolic brain disease 2008;23(1):43-9.
2008: Rick Martin; Michael Beck; Christine Eng; Roberto Giugliani; Paul Harmatz; Verónica Muñoz; Joseph Muenzer
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).
Pediatrics 2008;121(2):e377-86.
2008: Patricia Ashton-Prolla; Lucio Bakos; Gerson Junqueira; Roberto Giugliani; Sergio J Azevedo; David Hogg
Clinical and molecular characterization of patients at risk for hereditary melanoma in southern Brazil.
The Journal of investigative dermatology 2008;128(2):421-5.
2008: Daiana Benck Porsch; Ane Cláudia Fernandes Nunes; Vagner Milani; Liana Bertolin Rossato; Cristiane Bastos Mattos; Marilyn Tsao; Cristina B O Netto; Maira G Burin; Fernanda Pereira; Ursula Matte; Roberto Giugliani; Elvino Barros
Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report.
Renal failure 2008;30(9):825-30.
2008: Ana Flávia S Ferreira; Roberto Giugliani
Consumption of folic acid-fortified flour and folate-rich foods among women at reproductive age in South Brazil.
Community genetics 2008;11(3):179-84.
2008: Salmo Raskin; L Pereira-Ferrari; Francisco Caldeira Reis; F Abreu; P Marostica; Tatiana Rozov; Joselina Cardieri; Norberto Ludwig; Lairton Valentin; Nelson Augusto Rosario-Filho; Eurico Camargo Neto; Eduardo Lewis; Roberto Giugliani; Edna Maria Albuquerque Diniz; Lodercio Culpi; John Atlas Phillip; Ranajit Chakraborty
Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2008;7(1):15-22.
2007: F S Pereira; Laura B Jardim; C B Netto; Maira G Burin; Cláudia Cecchin; Roberto Giugliani; Ursula Matte
Genomic analysis of Brazilian patients with Fabry disease.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 2007;40(12):1599-604.
2007: Marion Deon; Angela Sitta; Alethéa G Barschak; Daniella M Coelho; Maiara Pigatto; Graziela O Schmitt; Laura B Jardim; Roberto Giugliani; Moacir Wajner; Carmen R Vargas
Induction of lipid peroxidation and decrease of antioxidant defenses in symptomatic and asymptomatic patients with X-linked adrenoleukodystrophy.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2007;25(7):441-4.
2007: Litsa Karageorgos; Doug A Brooks; Anthony Pollard; Elizabeth L Melville; Leanne K Hein; Peter R Clements; David Ketteridge; Stuart J Swiedler; Michael Beck; Roberto Giugliani; Paul Harmatz; James Wraith; Nathalie Guffon; Elisa Leão Teles; M. Clara Sá-Miranda; John J Hopwood
Mutational analysis of 105 mucopolysaccharidosis type VI patients.
Human mutation 2007;28(9):897-903.
2007: Leonardo Vedolin; Ida V D Schwartz; M Komlos; A Schuch; A C M M Azevedo; T Vieira; F K Maeda; A M Marques da Silva; Roberto Giugliani
Brain MRI in mucopolysaccharidosis: effect of aging and correlation with biochemical findings.
Neurology 2007;69(9):917-24.
2007: Roberto Giugliani; Paul Harmatz; James Wraith
Management guidelines for mucopolysaccharidosis VI.
Pediatrics 2007;120(2):405-18.
2007: Leonardo Vedolin; Ida V D Schwartz; M Komlos; A Schuch; A C Puga; Louise L C Pinto; A P Pires; Roberto Giugliani
Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II.
AJNR. American journal of neuroradiology 2007;28(6):1029-33.
2007: Edenir Inez Palmero; Patricia Ashton-Prolla; José Cláudio C da Rocha; Fernando Regla Vargas; Luciane Kalakun; Melissa Brauner Blom; Sérgio J Azevedo; Maira Caleffi; Roberto Giugliani; Lavínia Schüler-Faccini
Clinical characterization and risk profile of individuals seeking genetic counseling for hereditary breast cancer in Brazil.
Journal of genetic counseling 2007;16(3):363-71.
2007: Diane Marinho; Ana Cecilia Mano Azevedo; Samuel Rymer; Roberto Giugliani; Ida Vanessa Deoderleim Schwartz
[Pseudo-glaucoma in type VI mucopolysaccharidosis: case report].
Arquivos brasileiros de oftalmologia 2007;70(3):563; author reply 564.
2007: Fernanda Timm Seabra Souza; Luana Souza Sostruznik; Roberta Casagrande Scolari; Karen Joana Maciel de Castro; Roberto Giugliani; Janice C Coelho
Comparison of the measurement of lysosomal hydrolase activity in mycoplasma-contaminated and non-contaminated human fibroblast cultures treated with mycoplasma removal agent.
Clinical biochemistry 2007;40(8):521-5.
2007: Ida V D Schwartz; Márcia G Ribeiro; João G Mota; Maria Betânia P Toralles; Patrícia Correia; Dafne Horovitz; Emerson S Santos; Isabella L Monlleo; Agnes C Fett-Conte; Ruy P Oliveira Sobrinho; Denise Y J Norato; Anna Carolina Paula; Chong A Kim; Andréa R Duarte; Raquel Tavares Boy; Eugênia Valadares; Maria De Michelena; Paulina Mabe; Cyro D Martinhago; João Monteiro Pina-Neto; Fernando Kok; Sandra Leistner-Segal; Maira G Burin; Roberto Giugliani
A clinical study of 77 patients with mucopolysaccharidosis type II.
Acta paediatrica (Oslo, Norway : 1992). Supplement 2007;96(455):63-70.
2007: Silvia L Cossio; Patricia Ashton-Prolla; Maria Cátira Bortolini; Renata S Coura; Roberto Giugliani; João Carlos Prolla
Microsatellite instability testing in genetically heterogeneous populations.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2007;25(7):913-4; author reply 914-5.
2007: Alessandro Wajner; Kristiane Michelin; Maira G Burin; Ricardo F Pires; Maria Luiza S Pereira; Roberto Giugliani; Janice C Coelho
Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease.
Clinical biochemistry 2007;40(5-6):365-9.
2007: Maria Isabel Waddington Achatz; Magali Olivier; Florence Le Calvez; Ghyslaine Martel-Planche; Ademar Lopes; Benedito Mauro Rossi; Patricia Ashton-Prolla; Roberto Giugliani; Edenir Inez Palmero; Fernando Regla Vargas; José Claudio Casali Da Rocha; Andre Luiz Vettore; Pierre Hainaut
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
Cancer letters 2007;245(1-2):96-102.
2007: Silvia Liliana Cossio; Renata dos Santos Coura; Maria Cátira Bortolini; Roberto Giugliani; Patricia Ashton-Prolla; João Carlos Prolla
Polymorphic variation of mononucleotide microsatellites in healthy humans and its implication for microsatellite instability screening.
Arquivos de gastroenterologia 2007;44(1):64-7.
2007: Edenir Inez Palmero; Luciane Kalakun; Lavínia Schüler-Faccini; Roberto Giugliani; Fernando Regla Vargas; José Cláudio C Rocha; Patricia Ashton-Prolla
Cancer genetic counseling in public health care hospitals: the experience of three Brazilian services.
Community genetics 2007;10(2):110-9.
2006: Angela Sitta; Alethéa G Barschak; Marion Deon; T Terroso; R Pires; Roberto Giugliani; Carlos Severo Dutra-Filho; Moacir Wajner; Carmen R Vargas
Investigation of oxidative stress parameters in treated phenylketonuric patients.
Metabolic brain disease 2006;21(4):287-96.
2006: Laura B Jardim; Irenio Gomes; Cristina B O Netto; Daniel Bocchese Nora; Ursula Matte; F Pereira; Maira G Burin; Luciane Kalakun; Roberto Giugliani; Jefferson Becker
Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease.
Journal of inherited metabolic disease 2006;29(5):653-9.
2006: Gabriel Civallero; Kristiane Michelin; Jurema de Mari; Marli Viapiana; Maira G Burin; Janice C Coelho; Roberto Giugliani
Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases.
Clinica chimica acta; international journal of clinical chemistry 2006;372(1-2):98-102.
2006: Leonardo Vedolin; Carolina Fischinger Moura de Souza; Rogério Schwark Silveira; Bianca Cunha Lopes; Leticia Saldanha Laybauer; Maria Luiza Saraiva Pereira; Roberto Giugliani
Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2006;22(10):1355-9.
2006: Marion Deon; Moacir Wajner; Lisana R Sirtori; Douglas Fitarelli; Daniella M Coelho; Angela Sitta; Alethéa G Barschak; Gustavo C Ferreira; Alexsandro Haeser; Roberto Giugliani; Carmen R Vargas
The effect of Lorenzo's oil on oxidative stress in X-linked adrenoleukodystrophy.
Journal of the neurological sciences 2006;247(2):157-64.
2006: Laura B Jardim; Flávio Aesse; Leonardo Vedolin; Cláudio Pitta-Pinheiro; João Marconato; Maira G Burin; Cláudia Cecchin; Cristina B O Netto; Ursula Matte; Fernanda Pereira; Luciane Kalakun; Roberto Giugliani
White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up.
Arquivos de neuro-psiquiatria 2006;64(3B):711-7.
2006: A Trott; Laura B Jardim; H T Ludwig; J A M Saute; O Artigalás; Christian Kieling; H Y C Wanderley; Carlos R M Rieder; Thais L Monte; Mariana Peixoto Socal; Isabel Alonso; Anabela Ferro; Tiago Santos Carvalho; M do Céu Moreira; P Mendonça; Fátima Ferreirinha; Isabel Silveira; Jorge Sequeiros; Roberto Giugliani; Maria Luiza Saraiva Pereira
Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings.
Clinical genetics 2006;70(2):173-6.
2006: Ida V D Schwartz; Luciane C Lima; Karen Tylee; Ruy P Oliveira Sobrinho; Denise Y J Norato; Andréa R Duarte; G T N Besley; Maira G Burin; Ursula Matte; Roberto Giugliani; Sandra Leistner-Segal
Further cases of "neighbor" mutations in mucopolysaccharidosis type II.
American journal of medical genetics. Part A 2006;140(15):1684-6.
2006: Louise L C Pinto; Ida V D Schwartz; Ana C S Puga; Taiane A Vieira; Maria Verônica R Munoz; Roberto Giugliani
Prospective study of 11 Brazilian patients with mucopolysaccharidosis II.
Jornal de pediatria 2006;82(4):273-8.
2006: Paul Harmatz; Roberto Giugliani; Ida Schwartz; Nathalie Guffon; Elisa Leão Teles; M. Clara Sá-Miranda; James Wraith; Michael Beck; Laila Arash; MAURIZIO SCARPA; Zi-Fan Yu; Janet Wittes; Kenneth I Berger; Mary S Newman; Ann M Lowe; Emil D Kakkis; Stuart J Swiedler
Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.
The Journal of pediatrics 2006;148(4):533-539.
2006: A S Mello; Maira G Burin; K Michellin; M Viapiana; Roberto Giugliani; Janice C Coelho; Moisés E Bauer
Epstein-Barr virus-induced transformation of B cells for the diagnosis of genetic metabolic disorders--enumerative conditions for cryopreservation.
Cell proliferation 2006;39(1):29-36.
2006: Cristina B O Netto; Luis V Portela; Têmis Maria Félix; Diogo O Souza; Carlos-Alberto Gonçalves; Roberto Giugliani
Serum S100B levels in patients with neural tube defects.
Clinica chimica acta; international journal of clinical chemistry 2006;364(1-2):275-8.
2006: David S Mendelson; Melissa P Wasserstein; Robert J Desnick; Ronald Glass; William Simpson; Gwen Skloot; Marie Vanier; Bruno Bembi; Roberto Giugliani; Eugen Mengel; Gerald F Cox; Margaret M McGovern
Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing.
Radiology 2006;238(1):339-45.
2005: Kristiane Michelin; Alessandro Wajner; Hugo Bock; Angela Fachel; Roberto Rosenberg; Ricardo F Pires; Maria Luiza S Pereira; Roberto Giugliani; Janice C Coelho
Biochemical properties of beta-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers.
Clinica chimica acta; international journal of clinical chemistry 2005;362(1-2):101-9.
2005: JM Politei; MA Pagano; A Dubrovsky; F Pereira; Ursula Matte; Maira G Burin; Roberto Giugliani
[Neuropathic pain in a young female patient with Fabry's disease: a new mutation of the alpha-galactosidase A gene].
Revista de neurologia 2005;41(8):506-7.
2005: Kristiane Michelin; Alessandro Wajner; Fernanda T S de Souza; Alexandre S de Mello; Maira G Burin; Maria Luiza S Pereira; Ricardo F Pires; Roberto Giugliani; Janice C Coelho
Application of a comprehensive protocol for the identification of Gaucher disease in Brazil.
American journal of medical genetics. Part A 2005;136(1):58-62.
2005: Paul Harmatz; David Ketteridge; Roberto Giugliani; Nathalie Guffon; Elisa Leão Teles; M. Clara Sá-Miranda; Zi-Fan Yu; Stuart J Swiedler; John J Hopwood
Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase.
Pediatrics 2005;115(6):e681-9.
2005: Cristina B O Netto; Luis V Portela; Cristina Targa Ferreira; Carlos Kieling; Ursula Matte; Têmis Felix; Themis Reverbel da Silveira; Diogo O Souza; Carlos-Alberto Gonçalves; Roberto Giugliani
Ontogenetic changes in serum S100B in Down syndrome patients.
Clinical biochemistry 2005;38(5):433-5.
2005: Lisana R Sirtori; Carlos Severo Dutra-Filho; D Fitarelli; Angela Sitta; Alexsandro Haeser; Alethéa G Barschak; Moacir Wajner; Daniella M Coelho; Susana Llesuy; Adriane Belló-Klein; Roberto Giugliani; Marion Deon; Carmen R Vargas
Oxidative stress in patients with phenylketonuria.
Biochimica et biophysica acta 2005;1740(1):68-73.
2005: Stuart J Swiedler; Michael Beck; Manal Bajbouj; Roberto Giugliani; Ida Schwartz; Paul Harmatz; James Wraith; Jane Roberts; David Ketteridge; John J Hopwood; Nathalie Guffon; M. Clara Sá-Miranda; Elisa Leão Teles; Kenneth I Berger; Cheri Piscia-Nichols
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
American journal of medical genetics. Part A 2005;134A(2):144-50.
2005: Renata Sano; Vera M T Trindade; Alessandra Tessitore; Alessandra d'Azzo; Matheus B Vieira; Roberto Giugliani; Janice C Coelho
G(M1)-ganglioside degradation and biosynthesis in human and murine G(M1)-gangliosidosis.
Clinica chimica acta; international journal of clinical chemistry 2005;354(1-2):131-9.
2005: Melissa Camassola; L M Braga; Andrés Delgado-Cañedo; T P Dalberto; Ursula Matte; Maira G Burin; Roberto Giugliani; Nance Beyer Nardi
Nonviral in vivo gene transfer in the mucopolysaccharidosis I murine model.
Journal of inherited metabolic disease 2005;28(6):1035-43.
2005: M F G Petry; K Nonemacher; J C Sebben; Ida V D Schwartz; A C M M Azevedo; Maira G Burin; A R de Rezende; Chong A Kim; Roberto Giugliani; Sandra Leistner-Segal
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.
Journal of inherited metabolic disease 2005;28(6):1027-34.
2005: Shunji Tomatsu; Monica A Gutierrez; T Ishimaru; O M Peña; Adriana Montaño; H Maeda; Susana Velez-Castrillon; Tatsuo Nishioka; Angela Aguirres Fachel; Alan Cooper; Margaret Thornley; Ed Wraith; L A Barrera; L S Laybauer; Roberto Giugliani; Ida V Schwartz; G Schulze Frenking; M Beck; Susanne Kircher; Eduard Paschke; Seiji Yamaguchi; K Ullrich; Koji Isogai; Yasuyuki Suzuki; Tadao Orii; Akihiko Noguchi
Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses.
Journal of inherited metabolic disease 2005;28(5):743-57.
2005: Alexandra Latini; M Rodriguez; Rafael Borba Rosa; Karina Scussiato; Guilhian Leipnitz; D Reis de Assis; Gustavo da Costa Ferreira; Cláudia Funchal; Maria Caroline Jacques-Silva; L Buzin; Roberto Giugliani; Adriana Cassina; Rafael Radi; Moacir Wajner
3-Hydroxyglutaric acid moderately impairs energy metabolism in brain of young rats.
Neuroscience 2005;135(1):111-20.
2004: Alessandro Wajner; Kristiane Michelin; Maira G Burin; Ricardo F Pires; Maria Luiza S Pereira; Roberto Giugliani; Janice C Coelho
Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann-Pick diseases.
Clinical biochemistry 2004;37(10):893-7.
2004: A C M M Azevedo; Ida V D Schwartz; Luciane Kalakun; S Brustolin; Maira G Burin; A P C Beheregaray; Sandra Leistner; C Giugliani; M Rosa; P Barrios; Diane Marinho; P Esteves; E Valadares; Raquel Tavares Boy; Dafne Horovitz; P Mabe; L C S da Silva; I C N de Souza; M Ribeiro; A M Martins; D Palhares; Chong A Kim; Roberto Giugliani
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI.
Clinical genetics 2004;66(3):208-13.
2004: Maira G Burin; Ana P Scholz; Rejane Gus; Maria Teresa V Sanseverino; Alessandra Fritsh; José A Magalhães; Fernanda Timm; Patrícia Barrios; Marisa Chesky; Janice C Coelho; Roberto Giugliani
Investigation of lysosomal storage diseases in nonimmune hydrops fetalis.
Prenatal diagnosis 2004;24(8):653-7.
2004: Têmis Maria Félix; Sandra Leistner; Roberto Giugliani
Metabolic effects and the methylenetetrahydrofolate reductase (MTHFR) polymorphism associated with neural tube defects in southern Brazil.
Birth defects research. Part A, Clinical and molecular teratology 2004;70(7):459-63.
2004: Eurico Camargo Neto; Rosélia Rubin; Jacqueline Schulte; Roberto Giugliani
Newborn screening for congenital infectious diseases.
Emerging infectious diseases 2004;10(6):1068-73.
2004: Kristiane Michelin; Alessandro Wajner; Laureci da S Goulart; Angela Aguirres Fachel; Maria Luiza S Pereira; Alexandre S de Mello; Fernanda T S Souza; Ricardo F Pires; Roberto Giugliani; Janice C Coelho
Biochemical study on beta-glucosidase in individuals with Gaucher's disease and normal subjects.
Clinica chimica acta; international journal of clinical chemistry 2004;343(1-2):145-53.
2004: Shunji Tomatsu; Kazuo Okamura; Takeshi Taketani; Koji O Orii; Tatsuo Nishioka; Monica A Gutierrez; Susana Velez-Castrillon; Angela Aguirres Fachel; Jeffrey H Grubb; Alan Cooper; Margaret Thornley; Ed Wraith; Luis A Barrera; Roberto Giugliani; Ida V Schwartz; Gudrun Schulze Frenking; Michael Beck; Susanne Kircher; Eduard Paschke; Seiji Yamaguchi; Kurt Ullrich; Koji Isogai; Yasuyuki Suzuki; Tadao Orii; Naomi Kondo; Michael Creer; Akihiko Noguchi
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.
Pediatric research 2004;55(4):592-7.
2004: Eurico Camargo Neto; Jacqueline Schulte; R Rubim; E Lewis; J DeMari; C Castilhos; A Brites; Roberto Giugliani; K P Jensen; B Wolf
Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 2004;37(3):295-9.
2004: Cristina B Netto; Ionara R Siqueira; Cíntia Fochesatto; Luis V Portela; Maria da Purificação Tavares; Diogo O Souza; Roberto Giugliani; Carlos-Alberto Gonçalves
S100B content and SOD activity in amniotic fluid of pregnancies with Down syndrome.
Clinical biochemistry 2004;37(2):134-7.
2004: Carmen R Vargas; Moacir Wajner; Lisana R Sirtori; L Goulart; M Chiochetta; Daniella de Moura Coelho; Alexandra Latini; Susana Llesuy; A Bello-Klein; Roberto Giugliani; Marion Deon; Carlos Fernando Mello
Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophy.
Biochimica et biophysica acta 2004;1688(1):26-32.
2004: Roberto Giugliani; Ursula Matte
The Latin-American network of human genetics.
Community genetics 2004;7(2-3):74-5.
2004: Shunji Tomatsu; Tatiana Dieter; Ida V Schwartz; Piedad Sarmient; Roberto Giugliani; Luis A Barrera; Norberto Guelbert; Raquel Kremer; Gabriela M Repetto; Monica A Gutierrez; Tatsuo Nishioka; Olga Peña Serrato; Adriana Montaño; Seiji Yamaguchi; Akihiko Noguchi
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.
Journal of human genetics 2004;49(9):490-4.
2004: Laura B Jardim; Leonardo Vedolin; Ida V D Schwartz; Maira G Burin; Cláudia Cecchin; Luciane Kalakun; Ursula Matte; F Aesse; C Pitta-Pinheiro; J Marconato; Roberto Giugliani
CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy.
Journal of inherited metabolic disease 2004;27(2):229-40.
2003: Irenio Gomes; Daniel Bocchese Nora; Jefferson Becker; João Arthur Ehlers; Ida V D Schwartz; Roberto Giugliani; Patricia Ashton-Prolla; Laura B Jardim
Nerve conduction studies, electromyography and sympathetic skin response in Fabry's disease.
Journal of the neurological sciences 2003;214(1-2):21-5.
2003: I Schwartz; L R Silva; Sandra Leistner; L A Todeschini; Maira G Burin; João Monteiro Pina-Neto; R M Islam; G N Shah; W S Sly; Roberto Giugliani
Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.
Clinical genetics 2003;64(2):172-5.
2003: Cristina D Castilhos; Alexandre S Mello; Maira G Burin; Régis R Guidobono; Silvane Gotardo; Roberto Giugliani; Janice C Coelho
Application of a protocol for the detection of disorders of sialic acid metabolism to 124 high-risk Brazilian patients.
American journal of medical genetics. Part A 2003;119A(3):348-51.
2003: Luiz Carlos Santana da Silva; Tiago Santos Carvalho; Fernanda Britto da Silva; Liana Morari; Angela Aguirres Fachel; Ricardo F Pires; Lília Farret Refosco; Robert J Desnick; Roberto Giugliani; Maria Luiza Saraiva Pereira
Molecular characterization of phenylketonuria in South Brazil.
Molecular genetics and metabolism 2003;79(1):17-24.
2003: Carla Streit; Antônio Carlos Burlamaque-Neto; Fernando de Abreu e Silva; Roberto Giugliani; Maria Luiza Saraiva Pereira
CFTR gene: molecular analysis in patients from South Brazil.
Molecular genetics and metabolism 2003;78(4):259-64.
2003: Laura B Jardim; Isabel Silveira; Maria Luiza S Pereira; M do Céu Moreira; P Mendonça; Jorge Sequeiros; Roberto Giugliani
Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype.
Acta neurologica Scandinavica 2003;107(3):211-4.
2003: Márcia Fernanda Gomes Petry; Tatiana Dieter; Maira G Burin; Roberto Giugliani; Sandra Leistner
Identification of a novel mutation in the ARSB gene that is frequent among Brazilian MPSVI patients.
Genetic testing 2003;7(4):347-9.
2003: Ursula Matte; Gouri Yogalingam; Doug Brooks; Sandra Leistner; Ida Schwartz; Luciane Lima; Denise Y J Norato; Jaime M Brum; Clare E Beesley; Bryan Winchester; Roberto Giugliani; John J Hopwood
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.
Molecular genetics and metabolism 2003;78(1):37-43.
2002: Moacir Wajner; Kimiyo Raymond; Alethéa G Barschak; Ana Paula Luft; Gustavo Ferreira; Gislane Domingues; Marina Chiochetta; Lisana R Sirtori; Laureci Goulart; Vânia Pulrolnik; Ricardo F Pires; Eugênio Grillo; Alfredo Lohr; Carolina Funayama; Maria Teresa Sanseverino; Júlio César Longuercio-Leite; Janice C Coelho; Roberto Giugliani; Carmen Regla-Vargas
Detection of organic acidemias in Brazil.
Archives of medical research 2002;33(6):581-5.
2002: Liane Esteves Daudt; Débora Zechmaister; Liliana Portal; Eurico Camargo Neto; Lúcia Mariano da Rocha Silla; Roberto Giugliani
[Neonatal screening for hemoglobinopathies: a pilot study in Porto Alegre, Rio Grande do Sul, Brazil].
Cadernos de saúde pública 2002;18(3):833-41.
2002: Jovana Mandelli; Alessandro Wajner; Ricardo F Pires; Roberto Giugliani; Janice C Coelho
Effect of CuCl2, NaCl and EDTA on the enzyme alpha-L-iduronidase in the plasma of normal individuals and heterozygotes for MPS I.
Clinica chimica acta; international journal of clinical chemistry 2002;318(1-2):83-9.
2002: Mara Regina Netto Benetti; Rejane Gus Kessler; Ana Cristina Bittelbrunn; Bárbara Frantz; Jorge Villanova Biazus; Roberto Giugliani
Chromosome analysis in 31 cases of benign and malignant breast tumors: a study in Brazil.
Hereditas 2002;137(1):57-64.
2002: Jovana Mandelli; Alessandro Wajner; Ricardo F Pires; Roberto Giugliani; Janice C Coelho
Detection of mucopolysaccharidosis type I heterozygotes based on the biochemical characteristics of leukocyte alpha-L-iduronidase.
Archives of medical research 2002;33(1):20-4.
2001: Luciane C Lima; Ursula Matte; Sandra Leistner; A R Bopp; V C Scholl; Roberto Giugliani; Themis Reverbel da Silveira
Molecular analysis of the Pi*Z allele in patients with liver disease.
American journal of medical genetics 2001;104(4):287-90.
2001: Laura B Jardim; Isabel Silveira; Maria Luiza S Pereira; Anabela Ferro; Isabel Alonso; M do Céu Moreira; P Mendonça; Fátima Ferreirinha; Jorge Sequeiros; Roberto Giugliani
A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.
Journal of neurology 2001;248(10):870-6.
2001: Laura B Jardim; Maria Luiza S Pereira; Isabel Silveira; Anabela Ferro; Jorge Sequeiros; Roberto Giugliani
Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds.
Acta neurologica Scandinavica 2001;104(4):224-31.
2001: Jovana Mandelli; Alessandro Wajner; Ricardo F Pires; Roberto Giugliani; Janice C Coelho
Detection of mucopolysaccharidosis type I heterozygotes on the basis of the biochemical properties of plasma alpha-L-iduronidase.
Clinica chimica acta; international journal of clinical chemistry 2001;312(1-2):81-6.
2001: Doug A Brooks; Sylvie Fabrega; Leanne K Hein; Emma J Parkinson; Patrick Durand; Gouri Yogalingam; Ursula Matte; Roberto Giugliani; A Dasvarma; J Eslahpazire; Bernard Henrissat; Jean-Paul Mornon; John J Hopwood; Pierre Lehn
Glycosidase active site mutations in human alpha-L-iduronidase.
Glycobiology 2001;11(9):741-50.
2001: Ida V D Schwartz; S Karam; Patricia Ashton-Prolla; Kristiane Michelin; J Coelho; Ricardo F Pires; Maria Luiza S Pereira; Roberto Giugliani
Effects of imilglucerase withdrawal on an adult with Gaucher disease.
British journal of haematology 2001;113(4):1089.
2001: Laura B Jardim; Maria Luiza S Pereira; Isabel Silveira; Anabela Ferro; Jorge Sequeiros; Roberto Giugliani
Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n.
Archives of neurology 2001;58(6):899-904.
2001: F de C Reis; H C Caldas; Denise Y J Norato; Ida V D Schwartz; Roberto Giugliani; Maira G Burin; Edi Sartorato
Glycogen storage disease type Ia: molecular study in Brazilian patients.
Journal of human genetics 2001;46(3):146-9.
2000: Lilian Maria José Albano; S S Sugayama; Débora R Bertola; C E Andrade; CY Utagawa; F Puppi; H B Nader; L Toma; J Coelho; Sandra Leistner; Maira G Burin; Roberto Giugliani; A K Chong
Clinical and laboratorial study of 19 cases of mucopolysaccharidoses.
Revista do Hospital das Clínicas 2000;55(6):213-8.
2000: Maira G Burin; Carlos Severo Dutra-Filho; J Brum; T Mauricio; M Amorim; Roberto Giugliani
Effect of collection, transport, processing and storage of blood specimens on the activity of lysosomal enzymes in plasma and leukocytes.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 2000;33(9):1003-13.
2000: L C da Silva; Tiago Santos Carvalho; F B da Silva; Ricardo F Pires; Roberto Giugliani; Maria Luiza S Pereira
Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations.
Clinical genetics 2000;58(1):86-8.
2000: AM Sopelsa; MH Severini; C M Da Silva; PR Tobo; Roberto Giugliani; Janice C Coelho
Characterization of beta-galactosidase in leukocytes and fibroblasts of GM1 gangliosidosis heterozygotes compared to normal subjects.
Clinical biochemistry 2000;33(2):125-9.
2000: Ursula Matte; Sandra Leistner; L Lima; I Schwartz; Roberto Giugliani
Unique frequency of known mutations in Brazilian MPS I patients.
American journal of medical genetics 2000;90(2):108-9.
1999: MH Severini; C D Silva; AM Sopelsa; Janice C Coelho; Roberto Giugliani
High frequency of type 1 GM1 gangliosidosis in southern Brazil.
Clinical genetics 1999;56(2):168-9.
1999: Laura B Jardim; Roberto Giugliani; Ricardo F Pires; S Haussen; Maira G Burin; Mohammad A Rafi; David A Wenger
Protracted course of Krabbe disease in an adult patient bearing a novel mutation.
Archives of neurology 1999;56(8):1014-7.
1999: Patricia Ashton-Prolla; Grace A Ashley; Roberto Giugliani; Ricardo F Pires; Robert J Desnick; Christine M Eng
Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG).
American journal of medical genetics 1999;84(5):420-4.
1999: CY Utagawa; Sofia Mizuho Miura Sugayama; E M Ribeiro; Débora R Bertola; E R Baba; Maira G Burin; E Lewis; H C Coelho; A H Fensom; Maria Joaquina Marques-Dias; C H Gonzales; Chong A Kim; Roberto Giugliani
Infantile sialic acid storage disease: report of the first case in South America.
Clinical genetics 1999;55(5):386-7.
1999: Janice C Coelho; AM Sopelsa; PR Tobo; MH Severini; C D Silva; Roberto Giugliani
Biochemical studies on leukocyte and fibroblast human beta-galactosidase.
Clinical biochemistry 1999;32(3):167-70.
1999: Eurico Camargo Neto; Jacqueline Schulte; E Anele; R Rubim; Liliana Portal; Roberto Giugliani; E Lewis; Jurema de Mari; A Brites
A comprehensive screening program in South Brazil.
The Southeast Asian journal of tropical medicine and public health 1999;30 Suppl 2():47-8.
1999: Eurico Camargo Neto; Jacqueline Schulte; E Anele; D Becker; R Rubim; E Lewis; Jurema de Mari; Roberto Giugliani
Persistent tyrosinemia detected by thin-layer chromatography.
The Southeast Asian journal of tropical medicine and public health 1999;30 Suppl 2():151.
1999: F B Scalco; Roberto Giugliani; PR Tobo; J C Coelho
Effect of dimethylsulfoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 1999;32(1):23-8.
1999: C M Silva; MH Severini; AM Sopelsa; Janice C Coelho; A Zaha; A d'Azzo; Roberto Giugliani
Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.
Human mutation 1999;13(5):401-9.
1997: Janice C Coelho; Moacir Wajner; Maira G Burin; C R Vargas; Roberto Giugliani
Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism.
European journal of pediatrics 1997;156(8):650-4.
1997: M B Pereira; G C Da Conceição; J C Coelho; M Wajner; Roberto Giugliani
Detection of metabolic disorders in high-risk patients. A pilot study in Salvador, Bahia.
Arquivos de neuro-psiquiatria 1997;55(2):209-12.
1997: L C Silva; Ricardo F Pires; Janice C Coelho; Laura B Jardim; Roberto Giugliani
Evaluation of an aspartame loading test for the detection of heterozygotes for classical phenylketonuria.
Clinical genetics 1997;51(4):231-5.
1996: Laura B Jardim; R Palma-Dias; L C Silva; Patricia Ashton-Prolla; Roberto Giugliani
Maternal hyperphenylalaninaemia as a cause of microcephaly and mental retardation.
Acta paediatrica (Oslo, Norway : 1992) 1996;85(8):943-6.
1996: Belén Pérez; Lourdes R Desviat; Marisel De Lucca; B Schmidt; N Loghin-Grosso; Roberto Giugliani; Ricardo F Pires; Magdalena Ugarte
Mutation analysis of phenylketonuria in south Brazil.
Human mutation 1996;8(3):262-4.
1994: Laura B Jardim; Ricardo F Pires; C E Martins; C R Vargas; J Vizioli; F A Kliemann; Roberto Giugliani
Pyridoxine-dependent seizures associated with white matter abnormalities.
Neuropediatrics 1994;25(5):259-61.
1994: Laura B Jardim; Roberto Giugliani; J C Coelho; C S Dutra-Filho; N Blau
Possible high frequency of tetrahydrobiopterin deficiency in south Brazil.
Journal of inherited metabolic disease 1994;17(2):223-9.
1992: Moacir Wajner; M T Sanseverino; Roberto Giugliani; L Sweetman; S Yamaguchi; T Fukao; V E Shih
Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetylcoenzyme-A thiolase.
Clinical genetics 1992;41(4):202-5.
1992: Laura B Jardim; Roberto Giugliani; A H Fensom
Thalamic and basal ganglia hyperdensities--a CT marker for globoid cell leukodystrophy?
Neuropediatrics 1992;23(1):30-1.
1991: Laura B Jardim; A Carneiro; S Hansel; C R Rieder; Roberto Giugliani
CT hypodensity on cerebral white matter in Wilson's disease.
Arquivos de neuro-psiquiatria 1991;49(2):211-4.
1991: Roberto Giugliani; J C Dutra; M L Barth; C S Dutra-Filho; S L Goldenfum; Moacir Wajner
Seven-year experience of a reference laboratory for detection of inborn errors of metabolism in Brazil.
Journal of inherited metabolic disease 1991;14(3):400-2.
1990: M L Barth; Roberto Giugliani; S L Goldenfum; R Munarski; A Folberg; C Lekhwani; C Slade; AH Fensom
Application of a flowchart for the detection of lysosomal storage diseases in 105 high-risk Brazilian patients.
American journal of medical genetics 1990;37(4):534-8.
1989: Roberto Giugliani; C S Dutra-Filho; M L Barth; J C Dutra; Moacir Wajner; Clóvis M D Wannmacher; L T Montagner
Inborn errors of metabolism. Sensitivity of screening tests in high risk patients.
Clinical pediatrics 1989;28(11):494-7.
1987: Roberto Giugliani; M Jackson; S J Skinner; C M Vimal; AH Fensom; N Fahmy; A Sjövall; P F Benson
Progressive mental regression in siblings with Morquio disease type B (mucopolysaccharidosis IV B).
Clinical genetics 1987;32(5):313-25.
1986: M Wojciechowski; C S Dutra-Filho; A C Da Costa; L F Laser; Roberto Giugliani; N T Rotta; L Ohlweiler
[Börjeson-Forssman-Lehmann syndrome: report of a case].
Arquivos de neuro-psiquiatria 1986;44(3):289-92.
1985: Roberto Giugliani; J C Dutra; M L Pereira; N Rotta; M de L Drachler; L Ohlweiller; J M Pina Neto; C E Pinheiro; D J Breda
GM1 gangliosidosis: clinical and laboratory findings in eight families.
Human genetics 1985;70(4):347-54.