## Abstract We present two sibs with congenital disorder of glycosylation (CDG) type Id. Each shows severe global delay, failure to thrive, seizures, microcephaly, axial hypotonia, and disaccharidase deficiency. One sib has more severe digestive issues, while the other is more neurologically impair
Two families with Wilson disease in which siblings showed different phenotypes
β Scribed by Y. Takeshita; N. Shimizu; Y. Yamaguchi; H. Nakazono; M. Saitou; Y. Fujikawa; T. Aoki
- Publisher
- Nature Publishing Group
- Year
- 2002
- Tongue
- English
- Weight
- 105 KB
- Volume
- 47
- Category
- Article
- ISSN
- 1435-232X
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π SIMILAR VOLUMES
Wilson disease (WD) is an autosomal recessive disorder of copper transport, manifesting as chronic liver disease and/or neurologic impairment due to accumulation of copper in several tissues, principally the liver and the brain. The WD gene encodes a copper transporting P-type ATPase that is defecti
We identified a novel mutation (867delA) in the glucose-6-phosphatase gene of two siblings with glycogen storage disease type Ia. Although both siblings share the same mutations, their phenotype regarding adult height and hepatomegaly differs. In glycogen storage disease type Ia, substantial heterog