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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 ...
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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
Mutations in different components of FGF signaling in LADD syndrome
Lacrimo-auriculo-dento-digital (LADD) syndrome is characterized by lacrimal duct aplasia, malformed ears and deafness, small teeth and digital anomalies. We identified heterozygous mutations in the tyrosine ki...
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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
pH-Dependent association-dissociation of high and low activity plasma a-l-fucosidase
Population and family studies have confirmed the existence of a plasma a-l-fucosidase polymorphism in humans and the autosomal recessive inheritance of the low activity trait. The frequency of the latter is estim...
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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
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
Isoenzymes of serum N-acetyl-beta-D-glucosaminidase in the I cell disease heterozygote
Serum N-acetyl-beta-D-hexosaminidase is compared quantitatively and qualitatively in 14 obligate heterozygotes for the mutant gene causing I cell disease (ICD) or mucolipidosis II and in 31 normal controls. Th...
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Article
I-Cell disease (mucolipidosis type II) serum hydrolases in obligate heterozygotes
The mean activities of N-acetyl-β-D-glucosaminidase, β-D-glucuronidase, arylsulphatase A and β-D-galactosidase in the serum of 10 proved heterozygotes for the mutant gene causing I-cell disease (ICD) are signi...
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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
The remarkable cells cultured from a human with Hurler’s syndrome: An approach to visual selection forin vitro genetic studies
