𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A case of benign pyruvate carboxylase deficiency with normal development

✍ Scribed by J. Hamilton; M. D. Rae; R. W. Logan; P. H. Robinson

Book ID
110223005
Publisher
Springer
Year
1997
Tongue
English
Weight
10 KB
Volume
20
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Pyruvate carboxylase deficiency: Prenata
Pyruvate carboxylase deficiency: Prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form
✍ 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