Adult adrenoleukodystrophy: the clinical spectrum in a large Dutch family
β Scribed by C. P. Zwetsloot; G. W. Padberg; A. P. Seters; P. D. Maaswinkel-Mooy; W. Onkenhout
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 510 KB
- Volume
- 239
- Category
- Article
- ISSN
- 0340-5354
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Renal-coloboma syndrome includes abnormalities in the urogenital and ocular systems as its primary manifestations, although it can be associated with abnormalities in other systems as well. This syndrome is caused by mutations in the PAX2 gene and is transmitted as an autosomal dominant trait. We re
## Abstract The clinical diagnosis of ASS (AarskogβScott syndrome or Faciogenital Dysplasia) was made in seven individuals belonging to a large Arabic family, which was supported by molecular studies revealing a 2189delA mutation in exon 15 of the FDG1 gene. The affected individuals in this family
Mutation analysis was performed in a nonconsanguineous Dutch caucasian family with a grandfather presenting the first symptoms of glycogen storage disease type II (acid alpha-glucosidase deficiency) in the sixth decade of life and a grandchild with onset of symptoms shortly after birth. The grandfat
Autosomal dominantly inherited ataxias are a clinically and genetically heterogeneous group of neurodegenerative disorders. The gene involved in one subtype, spinocerebellar ataxia 1 (SCA l), was first localized to chromosome 6p. An unstable CAG repeat has been identified as the responsible mutation