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Vibeke Westphal

Sanford-Burnham Institute for Medical Research

14

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746

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Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology

2005 The Journal of Pediatrics
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Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic.

2003 Human Mutation
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Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins

2002 The Journal of Pediatrics
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A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency

2002 Human Molecular Genetics
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Molecular cloning, gene organization, and expression of mouse Mpi encoding phosphomannose isomerase

2002 Glycobiology
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Two Proteins Modulating Transendothelial Migration of Leukocytes Recognize Novel Carboxylated Glycans on Endothelial Cells

2001 Journal of Immunology
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Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia

2001 Genetics in Medicine
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Functional Analysis of Novel Mutations in a Congenital Disorder of Glycosylation Ia Patient with Mixed Asian Ancestry

2001 Molecular Genetics and Metabolism
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Genetic and Metabolic Analysis of the First Adult with Congenital Disorder of Glycosylation Type Ib: Long-Term Outcome and Effects of Mannose Supplementation

2001 Molecular Genetics and Metabolism
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Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation.

2000 American Journal of Pathology
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Citations (83)