A diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency was made in four sibs at different ages. The first three, including a pair of twins, had retarded psychomotor development, poor social contact, and seizures. Biologically, hyperhomocysteinemia and hypomethioninemia were found asso
β¦ LIBER β¦
Reversible infantile respiratory chain deficiency: A clinical and molecular study
β Scribed by Masakazu Mimaki; Hideyuki Hatakeyama; Hirofumi Komaki; Mina Yokoyama; Hidee Arai; Yohei Kirino; Tsutomu Suzuki; Ichizo Nishino; Ikuya Nonaka; Yu-ichi Goto
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 576 KB
- Volume
- 68
- Category
- Article
- ISSN
- 0364-5134
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