Molecular analysis of Cypriot patients with Glutaric aciduria type I: Identification of two novel mutations
โ Scribed by Georgiou, Theodoros; Nicolaidou, Paola; Hadjichristou, Anastasia; Ioannou, Rodothea; Dionysiou, Maria; Siama, Elli; Chappa, Georgia; Anastasiadou, Violetta; Drousiotou, Anthi
- Book ID
- 125805185
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 511 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0009-9120
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We identified three different point mutations in the glutaryl-CoA dehydrogenase (GCDH) gene in two unrelated Japanese patients with glutaric aciduria type I (GA-I). One patient was a homozygote for Arg355His and the other a compound heterozygote for Ser305Leu and Met339Val. Arg355His and Met339Val a
Communicated by Chrks R. Scriwer Mucopolysaccharidosis type I (MPS I) is an autosomal recessive genetic disorder caused by deficiency of the lysosomal glycosidase a-L-iduronidase. Patients with this disorder present with varied clinical phenotypes ranging from early severe onset of disease and deat