6 Result(s)
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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...
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Article
Spondylocostal dysostosis and urinary tract anomaly: Definition and review of an entity
A two-year-old girl with spondylocostal dysostosis and urinary tract anomalies is described. Genetic counselling to the healthy non-consanguineous parents is based on the hypothesis of autosomal recessive inhe...
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Article
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome
A 4-year-old girl is reported with a neonatally apparent progeroid syndrome. Parental consanguinity indicates autosomal recessive inheritance. Psychomotor development and physical growth are severely deficient...
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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
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
Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype
We report three siblings, two of whom had a neuropathological study, with a new subtype of congenital ponto-cerebellar atrophy (PCH). In addition to the brain stem and cerebellar anomalies common to all types ...
