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Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2

✍ Scribed by Michel Pirard; Gert Matthijs; Leen Heykants; Els Schollen; Stephanie Grünewald; Jaak Jaeken; Emile van Schaftingen

Book ID: 117110970
Publisher: Elsevier Science
Year: 1999
Tongue: English
Weight: 91 KB
Volume: 452
Category: Article
ISSN: 0014-5793
DOI: 10.1016/s0014-5793(99)00673-0

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Carbohydrate-deficient glycoprotein syndrome type Ia (CDGS) is an autosomal recessive disorder, characterized by a central nervous system dysfunction and multiorgan failure associated with defective N-glycosylation and phosphomannomutase (PMM) deficiency related to mutations in the PMM2 gene. A tota