Biotinidase deficiency is characterized by neurological and cutaneous abnormalities that can be prevented or ameliorated by oral biotin therapy. A child with biotinidase deficiency went undiagnosed for a long period and has irreversible neurological deficits despite biotin treatment. This child is h
Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay
โ Scribed by Chantal F. Morel; Patrick Scott; Ernst Christensen; David S. Rosenblatt; Rima Rozen
- Book ID
- 116987629
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 202 KB
- Volume
- 85
- Category
- Article
- ISSN
- 1096-7192
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