Abstract

We continue to explore the heterogenous clinical, molecular and biochemical features of Congenital Disorders of Glycosylation. This work has led to the organization of an Office of Rare Disease Sponsored Workshop on clinical management of these patients. We have published 2 papers; one on a novel mutation of PMM2 in CDG1A in the first identified African American patients ( AJMG, in press) and the other of the neurologic sequelae of stroke-like episodes in a young child with CDG 1A ( Neurology, in press).

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Intramural Research (Z01)
Project #
1Z01HG000100-05
Application #
6559320
Study Section
Molecular Genetics B Study Section (MGB)
Project Start
Project End
Budget Start
Budget End
Support Year
5
Fiscal Year
2001
Total Cost
Indirect Cost

  Institution

Name
Human Genome Research
Department
Type
DUNS #
City
State
Country
United States
Zip Code

  Publications

Huizing, Marjan; Krasnewich, Donna M (2009) Hereditary inclusion body myopathy: a decade of progress. Biochim Biophys Acta 1792:881-7
Galeano, Belinda; Klootwijk, Riko; Manoli, Irini et al. (2007) Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest 117:1585-94
Krasnewich, Donna; O'Brien, Kevin; Sparks, Susan (2007) Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia). Am J Med Genet C Semin Med Genet 145C:302-6
Sparks, Susan; Rakocevic, Goran; Joe, Galen et al. (2007) Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study. BMC Neurol 7:3
Kranz, Christian; Sun, Liangwu; Eklund, Erik A et al. (2007) CDG-Id in two siblings with partially different phenotypes. Am J Med Genet A 143A:1414-20
Ries, Markus; Moore, David F; Robinson, Chevalia J et al. (2006) Quantitative dysmorphology assessment in Fabry disease. Genet Med 8:96-101
Savelkoul, Paul J M; Manoli, Irini; Sparks, Susan E et al. (2006) Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy. Mol Genet Metab 88:389-90
Sparks, Susan E; Ciccone, Carla; Lalor, Molly et al. (2005) 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 15:1102-10
Huizing, Marjan; Rakocevic, Goran; Sparks, Susan E et al. (2004) Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol Genet Metab 81:196-202
Orvisky, E; Stubblefield, B; Long, R T et al. (2003) 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. Anal Biochem 317:12-8

Showing the most recent 10 out of 11 publications