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Arginase deficiency in two brothers

✍ Scribed by M. Candito; B. Bebin; C. Vianey-Saban; D. Rabier; S. Bekri; F. Sebag; P. Chambon; P. Kamoun


Book ID
104900054
Publisher
Springer
Year
1993
Tongue
English
Weight
207 KB
Volume
16
Category
Article
ISSN
0141-8955

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Creatine transporter deficiency in two h
✍ Orly Ardon; Cristina Amat di San Filippo; Gajja S. Salomons; Nicola Longo πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 174 KB

## Abstract X‐linked cerebral creatine deficiency is caused by the deficiency of the creatine transporter encoded by the __SLC6A8__ gene. Here, we report two half‐brothers with this condition and characterize creatine transport in human fibroblasts. The propositus presented at 6 months of age with