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Increased plasma biotinidase activity in patients with glycogen storage disease type Ia: Effect of biotin supplementation

✍ Scribed by A. B. Burlina; M. Dermikol; A. Mantau; S. Piovan; L. Grazian; F. Zacchello; Y. Shin


Publisher
Springer
Year
1996
Tongue
English
Weight
280 KB
Volume
19
Category
Article
ISSN
0141-8955

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Identification of three novel mutations
✍ Pascale Trioche; Jeanne Francoual; Jacqueline Chalas; Liliane Capel; Olivier Ber πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 10 KB πŸ‘ 1 views

Three novel mutations, Q54P, W70X and T108I, were identified in the gene encoding glucose-6phosphatase in three patients with glycogen storage disease type Ia. Two sibs of Portuguese origin were homozygous for the Q54P mutation whereas the third patient, originating from both France and Lebanon, was