𝔖 Bobbio Scriptorium
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Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate

✍ Scribed by Ayesha Ahmad; Stephen G. Kahler; Priya S. Kishnani; Merce Artigas-Lopez; Anuradha S. Pappu; Robert Steiner; David S. Millington; Johan L.K. Van Hove


Book ID
119977100
Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
326 KB
Volume
87
Category
Article
ISSN
0148-7299

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Pyruvate carboxylase deficiency: Prenata
✍ Brun, Nathalie; Robitaille, Yves; Grignon, AndrοΏ½e; Robinson, Brian H.; Mitchell, πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 67 KB πŸ‘ 2 views

Pyruvate carboxylase (PC) is a key enzyme in the gluconeogenesis and anaplerotic metabolic pathways. PC deficiency is a rare autosomal recessive disorder with three clinical presentations: an infantile form, a severe neonatal form, and a benign form. We report brother and sister sibs with the severe