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Joseph Muenzer

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Zheng Fan; James F Howard; Keith Kocis; Weili Lin; Joseph Muenzer; Hongyu An; Manisha Chopra; Robert Valley; William Powers
Safety and feasibility of high-pressure transvenous limb perfusion with 0.9% saline in human muscular dystrophy.
Marianne S Muhlebach; William Wooten; Joseph Muenzer
Respiratory manifestations in mucopolysaccharidoses.
Joseph Muenzer; Michael Beck; Roberto Giugliani; Yasuyuki Suzuki; Anna Tylki-Szymanska; Vassili Valayannopoulos; Ashok Vellodi; James Wraith
Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey.

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All Publications

2012: Zheng Fan; James F Howard; Keith Kocis; Weili Lin; Joseph Muenzer; Hongyu An; Manisha Chopra; Robert Valley; William Powers
Safety and feasibility of high-pressure transvenous limb perfusion with 0.9% saline in human muscular dystrophy.
Molecular therapy : the journal of the American Society of Gene Therapy 2012;20(2):456-61.
2011: Marianne S Muhlebach; William Wooten; Joseph Muenzer
Respiratory manifestations in mucopolysaccharidoses.
Paediatric respiratory reviews 2011;12(2):133-8.
2011: Joseph Muenzer; Michael Beck; Roberto Giugliani; Yasuyuki Suzuki; Anna Tylki-Szymanska; Vassili Valayannopoulos; Ashok Vellodi; James Wraith
Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey.
Genetics in medicine : official journal of the American College of Medical Genetics 2011;13(2):102-9.
2011: Joseph Muenzer; Michael Beck; Christine M Eng; Roberto Giugliani; Paul Harmatz; Rick Martin; Uma Ramaswami; Ashok Vellodi; James Wraith; Maureen Cleary; Muge Calikoglu; Ana Cristina Puga; Marwan Shinawi; Birgit Ulbrich; Suresh Vijayaraghavan; Suzanne Wendt; Anne Marie Conway; Alexandra Rossi; David A H Whiteman; Alan Kimura
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2011;13(2):95-101.
2011: Bien Lai; Joseph Muenzer; Michael W Roberts
Idiopathic gingival hyperplasia: a case report with a 17-year followup.
Case reports in dentistry 2011;2011():986237.
2010: Haiyan Fu; Julianne DiRosario; Lu Kang; Joseph Muenzer; Douglass Mccarty
Restoration of central nervous system alpha-N-acetylglucosaminidase activity and therapeutic benefits in mucopolysaccharidosis IIIB mice by a single intracisternal recombinant adeno-associated viral type 2 vector delivery.
The journal of gene medicine 2010;12(7):624-33.
2010: Michael Beck; Joseph Muenzer; MAURIZIO SCARPA
Evaluation of disease severity in mucopolysaccharidoses.
Journal of pediatric rehabilitation medicine 2010;3(1):39-46.
2009: Joseph Muenzer; Michael Beck; C M Eng; Maria L Escolar; R Giugliani; N H Guffon; Paul Harmatz; W Kamin; C Kampmann; S T Koseoglu; B Link; R A Martin; D W Molter; M V Muñoz Rojas; J W Ogilvie; R Parini; Uma Ramaswami; MAURIZIO SCARPA; I V Schwartz; R E Wood; E Wraith
Multidisciplinary management of Hunter syndrome.
Pediatrics 2009;124(6):e1228-39.
2009: Douglass Mccarty; J DiRosario; K Gulaid; Joseph Muenzer; H Fu
Mannitol-facilitated CNS entry of rAAV2 vector significantly delayed the neurological disease progression in MPS IIIB mice.
Gene therapy 2009;16(11):1340-52.
2009: Chester B Whitley; John A Barranger; Christine M Eng; Beverly L Davidson; Gregory A Grabowski; Bonnie Kohler; Joseph Muenzer; Gary J Murray; Gregory M Pastores; Sanj K Patel; Elsa G Shapiro; Robert D Steiner; Steven U Walkley; Barbara A Wedehase; William R Wilcox
Lysosomal Disease Network's "WORLD Symposium 2009". Introduction.
Molecular genetics and metabolism 2009;96(2):S3-5.
2009: Lorne A Clarke; James Wraith; Michael Beck; Edwin H Kolodny; Gregory M Pastores; Joseph Muenzer; David M Rapoport; Kenneth I Berger; Marisa Sidman; Emil D Kakkis; Gerald F Cox
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.
Pediatrics 2009;123(1):229-40.
2009: Joseph Muenzer; James Wraith; Lorne A Clarke
Mucopolysaccharidosis I: management and treatment guidelines.
Pediatrics 2009;123(1):19-29.
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: Joseph Muenzer; Ana Maria Martins
Hunter syndrome: to treat or not to treat.
Acta paediatrica (Oslo, Norway : 1992). Supplement 2008;97(457):55-6.
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.
2007: A R Garcia; J Pan; Justin C Lamsa; Joseph Muenzer
The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome).
Journal of inherited metabolic disease 2007;30(6):924-34.
2007: Haiyan Fu; L Kang; J S Jennings; Sheryl S Moy; A Perez; J Dirosario; Douglass Mccarty; Joseph Muenzer
Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice.
Gene therapy 2007;14(14):1065-77.
2007: Antony R Garcia; Jeffrey M DaCosta; Jing Pan; Joseph Muenzer; Justin C Lamsa
Preclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS II.
Molecular genetics and metabolism 2007;91(2):183-90.
2007: Gregory M Pastores; Pamela Arn; Michael Beck; Joe T R Clarke; Nathalie Guffon; Paige Kaplan; Joseph Muenzer; Denise Y J Norato; Elsa Shapiro; Janet Thomas; David H Viskochil; James Wraith
The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I.
Molecular genetics and metabolism 2007;91(1):37-47.
2007: Joseph Muenzer; Muge Calikoglu; Shawn E McCandless; Thomas J Schuetz; Alan Kimura
A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome).
Molecular genetics and metabolism 2007;90(3):329-37.
2006: T David Elkin; Gail Megason; Anita Robinson; Hans-Georg O Bock; Gregory Schrimsher; Joseph Muenzer
Longitudinal neurocognitive outcome in an adolescent with Hurler-Scheie syndrome.
Neuropsychiatric disease and treatment 2006;2(3):381-6.
2006: Joseph Muenzer; James Wraith; Michael Beck; Roberto Giugliani; Paul Harmatz; Christine M Eng; Ashok Vellodi; Rick Martin; Uma Ramaswami; Muge Calikoglu; Suresh Vijayaraghavan; Suzanne Wendt; Suzanne Wendt; Ana Cristina Puga; Antonio Puga; Brian Ulbrich; Marwan Shinawi; Maureen Cleary; Diane Piper; Anne Marie Conway; Ann Marie Conway; Alan Kimura
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome).
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(8):465-73.
2006: Alice A Basinger; Jessica K Booker; Dianne M Frazier; Dwight D Koeberl; Jennifer A Sullivan; Joseph Muenzer
Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina.
Molecular genetics and metabolism 2006;88(1):90-2.
2006: Dianne M Frazier; David S Millington; Shawn E McCandless; Dwight D Koeberl; Susan D Weavil; Shu Chaing; Joseph Muenzer
The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.
Journal of inherited metabolic disease 2006;29(1):76-85.
2005: Adelaide Friso; Rosella Tomanin; Sabrina Alba; Nicoletta Gasparotto; Elisabetta Piller Puicher; Mariella Fusco; Gonzalo Hortelano; Joseph Muenzer; Oriano Marin; Franco Zacchello; Marina Scarpa
Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts.
The journal of gene medicine 2005;7(11):1482-91.
2004: Maria G. Matheus; Mauricio Castillo; J Smith; Diane Armao; Diane Towle; Joseph Muenzer
Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation.
Neuroradiology 2004;46(8):666-72.
2004: Joseph Muenzer; Amy Fisher
Advances in the treatment of mucopolysaccharidosis type I.
The New England journal of medicine 2004;350(19):1932-4.
2004: James Wraith; Lorne A Clarke; Michael Beck; Edwin H Kolodny; Gregory M Pastores; Joseph Muenzer; David M Rapoport; Kenneth I Berger; Stuart J Swiedler; Emil D Kakkis; Tanja Braakman; Elenie Chadbourne; Karen Walton-Bowen; Gerald F Cox
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).
The Journal of pediatrics 2004;144(5):581-8.
2004: Joseph Muenzer
The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations.
The Journal of pediatrics 2004;144(5 Suppl):S27-34.
2003: Haiyan Fu; Joseph Muenzer; R Jude Samulski; George R Breese; Jerillyn Sifford; Xinhua Zeng; Douglass Mccarty
Self-complementary adeno-associated virus serotype 2 vector: global distribution and broad dispersion of AAV-mediated transgene expression in mouse brain.
Molecular therapy : the journal of the American Society of Gene Therapy 2003;8(6):911-7.
2003: Michael C Mareska; Kristin K Adams; Joseph Muenzer; Frank Frerman; Thomas Braun; JF Howard
Adult-Onset Presentation of Glutaric Acidemia Type II With Myopathy.
Journal of clinical neuromuscular disease 2003;4(3):124-8.
2003: Dwight D Koeberl; David S Millington; Wendy E Smith; Susan D Weavil; Joseph Muenzer; Shawn E McCandless; Priya S Kishnani; Marie T McDonald; Shu Chaing; Anne Boney; E Moore; Dianne M Frazier
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.
Journal of inherited metabolic disease 2003;26(1):25-35.
2002: Joseph Muenzer; Justin C Lamsa; A Garcia; J Dacosta; J Garcia; Douglas Treco
Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report.
Acta paediatrica (Oslo, Norway : 1992). Supplement 2002;91(439):98-9.
2002: Haiyan Fu; R Jude Samulski; Thomas J McCown; Yoana J Picornell; David Fletcher; Joseph Muenzer
Neurological correction of lysosomal storage in a mucopolysaccharidosis IIIB mouse model by adeno-associated virus-mediated gene delivery.
Molecular therapy : the journal of the American Society of Gene Therapy 2002;5(1):42-9.
2001: Brage S Andresen; Steven F Dobrowolski; Linda P O'Reilly; Joseph Muenzer; Shawn E McCandless; Dianne M Frazier; S Udvari; Peter Bross; Inga Knudsen; Richard A Banas; Donald H Chace; P Engel; Edwin W Naylor; Niels Gregersen
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
American journal of human genetics 2001;68(6):1408-18.
2001: Emil D Kakkis; Joseph Muenzer; G E Tiller; L Waber; J Belmont; M Passage; B Izykowski; J Phillips; Robin W Doroshow; Irwin Walot; R Hoft; Elizabeth F Neufeld
Enzyme-replacement therapy in mucopolysaccharidosis I.
The New England journal of medicine 2001;344(3):182-8.
2000: Brent W Weston; J L Lin; Joseph Muenzer; H S Cameron; Roland R Arnold; Hans H Seydewitz; E Mayatepek; Emile Van Schaftingen; Maria Veiga-da-Cunha; Dietrich Matern; Y T Chen
Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.
Pediatric research 2000;48(3):329-34.
1999: Pamela Reitnauer; Shu Chaing; Joseph Muenzer
Why do critically ill newborns not get mandated screening?
North Carolina medical journal 1999;60(5):256-8.
1995: Johan L K Van Hove; Priya S Kishnani; Joseph Muenzer; R J Wenstrup; Marshall Summar; M R Brummond; Ave M Lachiewicz; David S Millington; SG Kahler
Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.
American journal of medical genetics 1995;59(4):444-53.
1992: Joseph Muenzer; Elizabeth F Neufeld; G Constantopoulos; Rafael C Caruso; Muriel I Kaiser-Kupfer; A Pikus; J Danoff; R R Berry; H D McDonald; J N Thompson
Attempted enzyme replacement using human amnion membrane implantations in mucopolysaccharidoses.
Journal of inherited metabolic disease 1992;15(1):25-37.
1991: Steven abrams; J B Sidbury; Joseph Muenzer; Nora Esteban-Cruciani; Nancy E Vieira; Alfred L Yergey
Stable isotopic measurement of endogenous fecal calcium excretion in children.
Journal of pediatric gastroenterology and nutrition 1991;12(4):469-73.
1988: Michael M Bliziotes; Alfred L Yergey; M S Nanes; Joseph Muenzer; M G Begley; Nancy E Vieira; K K Kher; Maria Luisa Brandi; Stephen J Marx
Absent intestinal response to calciferols in hereditary resistance to 1,25-dihydroxyvitamin D: documentation and effective therapy with high dose intravenous calcium infusions.
The Journal of clinical endocrinology and metabolism 1988;66(2):294-300.
1986: Rafael C Caruso; Muriel I Kaiser-Kupfer; Joseph Muenzer; I H Ludwig; Michael Zasloff; P A Mercer
Electroretinographic findings in the mucopolysaccharidoses.
Ophthalmology 1986;93(12):1612-6.
1986: Joseph Muenzer
Mucopolysaccharidoses.
Advances in pediatrics 1986;33():269-302.
1979: Joseph Muenzer; C Bildstein; M Gleason; D M Carlson
Properties of proline-rich proteins from parotid glands of isoproterenol-treated rats.
The Journal of biological chemistry 1979;254(13):5629-34.
1979: Joseph Muenzer; C Bildstein; M Gleason; D M Carlson
Purification of proline-rich proteins from parotid glands of isoproterenol-treated rats.
The Journal of biological chemistry 1979;254(13):5623-8.