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Hepatic phosphoenolpyruvate carboxykinase deficiency: a neonatal case with reduced activity of pyruvate carboxylase

✍ Scribed by M. Matsuo; E. Maeda; H. Nakamura; K. Koike; M. Koike


Book ID
105312317
Publisher
Springer
Year
1989
Tongue
English
Weight
170 KB
Volume
12
Category
Article
ISSN
0141-8955

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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