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Donna Krasnewich

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Publications

TOP 3
Huizing Marjan; Krasnewich Donna M
Hereditary inclusion body myopathy: a decade of progress.
Staretz-Chacham Orna; Lang Tess C; LaMarca Mary E; Krasnewich Donna; Sidransky Ellen
Lysosomal storage disorders in the newborn.
Klootwijk Riko D; Savelkoul Paul J M; Ciccone Carla; Manoli Irini; Caplen Natasha J; Krasnewich Donna M; Gahl William A; Huizing Marjan
Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.

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All Publications

2009: Huizing Marjan; Krasnewich Donna M
Hereditary inclusion body myopathy: a decade of progress.
Biochimica et biophysica acta 2009;1792(9):881-7.
2009: Staretz-Chacham Orna; Lang Tess C; LaMarca Mary E; Krasnewich Donna; Sidransky Ellen
Lysosomal storage disorders in the newborn.
Pediatrics 2009;123(4):1191-207.
2008: Klootwijk Riko D; Savelkoul Paul J M; Ciccone Carla; Manoli Irini; Caplen Natasha J; Krasnewich Donna M; Gahl William A; Huizing Marjan
Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008;22(11):3846-52.
2007: Agarwal Beamon; Ahmed Atif; Rushing Elisabeth J; Bloom Miriam; Kadom Nadja; Vezina Gilbert; Krasnewich Donna; Santi Mariarita
Congenital disorder of glycosylation-X: clinicopathologic study of an autopsy case with distinct neuropathologic features.
Human pathology 2007;38(11):1714-9.
2007: Krasnewich Donna; O'Brien Kevin; Sparks Susan
Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia).
American journal of medical genetics. Part C, Seminars in medical genetics 2007;145C(3):302-6.
2007: Kranz Christian; Sun Liangwu; Eklund Erik A; Krasnewich Donna; Casey Janet R; Freeze Hudson H
CDG-Id in two siblings with partially different phenotypes.
American journal of medical genetics. Part A 2007;143A(13):1414-20.
2007: Galeano Belinda; Klootwijk Riko; Manoli Irini; Sun MaoSen; Ciccone Carla; Darvish Daniel; Starost Matthew F; Zerfas Patricia M; Hoffmann Victoria J; Hoogstraten-Miller Shelley; Krasnewich Donna M; Gahl William A; Huizing Marjan
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.
The Journal of clinical investigation 2007;117(6):1585-94.
2007: Sparks Susan; Rakocevic Goran; Joe Galen; Manoli Irini; Shrader Joseph; Harris-Love Michael; Sonies Barbara; Ciccone Carla; Dorward Heidi; Krasnewich Donna; Huizing Marjan; Dalakas Marinos C; Gahl William A
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.
BMC neurology 2007;7():3.
2006: Savelkoul Paul J M; Manoli Irini; Sparks Susan E; Ciccone Carla; Gahl William A; Krasnewich Donna M; Huizing Marjan
Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy.
Molecular genetics and metabolism 2006;88(4):389-90.
2006: Ries Markus; Moore David F; Robinson Chevalia J; Tifft Cynthia J; Rosenbaum Kenneth N; Brady Roscoe O; Schiffmann Raphael; Krasnewich Donna
Quantitative dysmorphology assessment in Fabry disease.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(2):96-101.
2005: Sparks Susan E; Ciccone Carla; Lalor Molly; Orvisky Eduard; Klootwijk Riko; Savelkoul Paul J; Dalakas Marinos C; Krasnewich Donna M; Gahl William A; Huizing Marjan
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
Glycobiology 2005;15(11):1102-10.
2005: Gottlieb Emily; Ciccone Carla; Darvish Daniel; Naiem-Cohen Shahrouz; Dalakas Marinos C; Savelkoul Paul J; Krasnewich Donna M; Gahl William A; Huizing Marjan
Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy.
Molecular genetics and metabolism 2005;86(1-2):244-9.
2004: Kleta Robert; Bernardini Isa; Ueda Masako; Varade William S; Phornphutkul Chanika; Krasnewich Donna; Gahl William A
Long-term follow-up of well-treated nephropathic cystinosis patients.
The Journal of pediatrics 2004;145(4):555-60.
2004: Kleta Robert; Morse Richard P; Orvisky Eduard; Krasnewich Donna; Alroy Joseph; Ucci Angelo A; Bernardini Isa; Wenger David A; Gahl William A
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.
Molecular genetics and metabolism 2004;82(2):137-43.
2004: Huizing Marjan; Rakocevic Goran; Sparks Susan E; Mamali Ioanna; Shatunov Alexey; Goldfarb Lev; Krasnewich Donna; Gahl William A; Dalakas Marinos C
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.
Molecular genetics and metabolism 2004;81(3):196-202.
2004: Gropman Andrea; Chen Tian-Jian; Perng Cherng-Lih; Krasnewich Donna; Chernoff Edith; Tifft Cynthia; Wong Lee-Jun C
Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation.
American journal of medical genetics. Part A 2004;124A(4):377-82.
2003: Wu Xiaohua; Rush Jeffrey S; Karaoglu Denise; Krasnewich Donna; Lubinsky Mark S; Waechter Charles J; Gilmore Reid; Freeze Hudson H
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.
Human mutation 2003;22(2):144-50.
2003: Kleta Robert; Aughton David J; Rivkin Michael J; Huizing Marjan; Strovel Erin; Anikster Yair; Orvisky Eduard; Natowicz Marvin; Krasnewich Donna; Gahl William A
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
American journal of medical genetics. Part A 2003;120A(1):28-33.
2003: Martin Rick A; Slaugh Rachel; Natowicz Marvin; Pearlman Kayla; Orvisky Eduard; Krasnewich Donna; Kleta Robert; Huizing Marjan; Gahl William A
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.
American journal of medical genetics. Part A 2003;120A(1):23-7.
2003: Orvisky E; Stubblefield B; Long R T; Martin B M; Sidransky E; Krasnewich D
Phosphomannomutase activity in congenital disorders of glycosylation type Ia determined by direct analysis of the interconversion of mannose-1-phosphate to mannose-6-phosphate by high-pH anion-exchange chromatography with pulsed amperometric detection.
Analytical biochemistry 2003;317(1):12-8.
2002: Tayebi Nahid; Andrews David Q; Park Joseph K; Orvisky Eduard; McReynolds John; Sidransky Ellen; Krasnewich Donna M
A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia.
American journal of medical genetics 2002;108(3):241-6.
2001: Tayebi N; Callahan M; Madike V; Stubblefield B K; Orvisky E; Krasnewich D; Fillano J J; Sidransky E
Gaucher disease and parkinsonism: a phenotypic and genotypic characterization.
Molecular genetics and metabolism 2001;73(4):313-21.
2001: Leroy J G; Seppala R; Huizing M; Dacremont G; De Simpel H; Van Coster R N; Orvisky E; Krasnewich D M; Gahl W A
Dominant inheritance of sialuria, an inborn error of feedback inhibition.
American journal of human genetics 2001;68(6):1419-27.
2000: Yan W L; Guan X Y; Green E D; Nicolson R; Yap T K; Zhang J; Jacobsen L K; Krasnewich D M; Kumra S; Lenane M C; Gochman P; Damschroder-Williams P J; Esterling L E; Long R T; Martin B M; Sidransky E; Rapoport J L; Ginns E I
Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21.
American journal of medical genetics 2000;96(6):749-53.
2000: Davis J; Krasnewich D; Puck J M
Genetic testing and screening in pediatric populations.
The Nursing clinics of North America 2000;35(3):643-51.
2000: Orvisky E; Sidransky E; McKinney C E; Lamarca M E; Samimi R; Krasnewich D; Martin B M; Ginns E I
Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation.
Pediatric research 2000;48(2):233-7.
2000: Stone D L; Ginns E I; Krasnewich D; Sidransky E
Life-threatening splenic hemorrhage in two patients with Gaucher disease.
American journal of hematology 2000;64(2):140-2.
1999: Usiskin S I; Nicolson R; Krasnewich D M; Yan W; Lenane M; Wudarsky M; Hamburger S D; Rapoport J L
Velocardiofacial syndrome in childhood-onset schizophrenia.
Journal of the American Academy of Child and Adolescent Psychiatry 1999;38(12):1536-43.
1999: Ferreira H; Seppala R; Pinto R; Huizing M; Martins E; Braga A C; Gomes L; Krasnewich D M; Sa Miranda M C; Gahl W A
Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.
Molecular genetics and metabolism 1999;67(2):131-7.
1998: Krasnewich D; Dietrich K; Bauer L; Ginns E I; Sidransky E; Hill S
Splenectomy in Gaucher disease: new management dilemmas.
Blood 1998;91(8):3085-7.
1998: Kumra S; Wiggs E; Krasnewich D; Meck J; Smith A C; Bedwell J; Fernandez T; Jacobsen L K; Lenane M; Rapoport J L
Brief report: association of sex chromosome anomalies with childhood-onset psychotic disorders.
Journal of the American Academy of Child and Adolescent Psychiatry 1998;37(3):292-6.
1998: Yan W; Jacobsen L K; Krasnewich D M; Guan X Y; Lenane M C; Paul S P; Dalwadi H N; Zhang H; Long R T; Kumra S; Martin B M; Scambler P J; Trent J M; Sidransky E; Ginns E I; Rapoport J L
Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired".
American journal of medical genetics 1998;81(1):41-3.
1997: Krasnewich D; Gahl W A
Carbohydrate-deficient glycoprotein syndrome.
Advances in pediatrics 1997;44():109-40.
1994: Gordon C T; Krasnewich D; White B; Lenane M; Rapoport J L
Brief report: translocation involving chromosomes 1 and 7 in a boy with childhood-onset schizophrenia.
Journal of autism and developmental disorders 1994;24(4):537-45.

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Donna Krasnewich

Research Profile (preview)

Disorders

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Living Beings

Physiology

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Network (preview)

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