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Article
Congenital Disorders of N-Glycosylation Including Diseases Associated With O- as Well as N-Glycosylation Defects
The congenital disorders of N-glycosylation (CDG), a steadily increasing group of multi-systemic disorders, have severe clinical implications in infancy and early childhood. The various inborn errors responsib...
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Article
Erratum: Mutations in different components of FGF signaling in LADD syndrome
Nat. Genet. 38, 414–417 (2006). The name of the 18th author (Christian Kubisch) is spelled correctly here.
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Article
Diagnostic Value of Immunostaining in Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects
In the last decades, a large variety of oxidative phosphorylation (OXPHOS) defects have been reported, expressed as an increasing variety of clinical phenotypes. With the expanding number of genes and proteins...
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Article
I-Cell Disease: Biochemical Studies
Extract: Six patients with I-cell disease (ICD) are studied. Multiple acid hydrolase deficiencies are demonstrated in cultured skin fibroblasts. These include βs-galactosidase (2% of normal), β-glucosaminidase (8...