𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Reversible infantile respiratory chain deficiency: A clinical and molecular study

✍ 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

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Methylenetetrahydrofolate reductase defi
✍ Tonetti, Carole; Burtscher, Alain; Bories, Dominique; Tulliez, Michel; Zittoun, πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 21 KB πŸ‘ 2 views

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

6-Pyruvoyl-tetrahydropterin synthase def
✍ Dr. T. Hanihara; K. Inoue; C. Kawanishi; N. Sugiyama; T. Miyakawa; H. Onishi; Y. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 380 KB

## Abstract We report the case of a 44‐year‐old woman with a partial 6‐pyruvoyl tetrahydropterin synthase (6‐PTS) deficiency, whose predominant clinical symptom was generalized dystonia with marked diurnal fluctuation. Dystonia was present in the eyelids, oromandibular region, trunk, and extremitie