## Abstract Steroid 21βhydroxylase deficiency is present in more than 90% of patients with congenital adrenal hyperplasia (CAH), an inherited metabolic disorder of adrenal steroidogenesis. Impaired enzymatic activity leads to the accumulation of metabolic intermediates (progesterone and 17βhydroxyp
β¦ LIBER β¦
Two novel missense mutations (E654K, L396P) in caucasian patients with myophosphorylase deficiency (McArdle's disease)
β Scribed by Seiichi Tsujino; Sara Shanske; Andrea Martinuzzi; Terry Heiman-Patterson; Salvatore DiMauro
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 204 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1059-7794
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Ornithine transcarbamylase (OTC) deficiency, a X-linked disorder, is the most frequent inborn error of the urea cycle. Point mutations and small deletions/insertions in the OTC gene are responsible for the majority of the cases and have a "private"character with little recurrence. We report on eleve