𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle

✍ Scribed by R Ensenauer; T Thiel; K.O Schwab; U Tacke; S Stöckler-Ipsiroglu; A Schulze; J Hennig; W Lehnert

Book ID
116987504
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
353 KB
Volume
82
Category
Article
ISSN
1096-7192

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

MR spectroscopy of muscle and brain in g
MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: Validation of an animal model to study creatine deficiency
✍ W. Klaas Jan Renema; Andreas Schmidt; Jack J.A. van Asten; Frank Oerlemans; Kurt 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 253 KB

## Abstract As a model for guanidinoacetate methyltransferase (GAMT) deficiency in humans, a gene knockout mouse model was generated. Here we report on several metabolic abnormalities in these mice, observed by in vivo and in vitro MR spectroscopy. In ^1^H MR spectra of brain and hindleg muscle a c

Lack of creatine in muscle and brain in
Lack of creatine in muscle and brain in an adult with GAMT deficiency
✍ Andreas Schulze; Peter Bachert; Heinz Schlemmer; Inga Harting; Tilman Polster; G 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 91 KB 👁 1 views

## Abstract Guanidinoacetate methyltransferase deficiency, which so far has been exclusively detected in children, was diagnosed in a 26‐year‐old man. The full‐blown spectrum of clinical symptoms already had been present since infancy without progression of symptoms during adolescence. Cranial magn