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Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter

✍ Scribed by Noriyuki Namba; Yuri Etani; Taichi Kitaoka; Yasuko Nakamoto; Mariko Nakacho; Kazuhiko Bessho; Yoko Miyoshi; Sotaro Mushiake; Ikuko Mohri; Hiroshi Arai; Masako Taniike; Keiichi Ozono


Book ID
106121429
Publisher
Springer
Year
2007
Tongue
English
Weight
372 KB
Volume
167
Category
Article
ISSN
0340-6997

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A mutation in PEX19 causes a severe clin
✍ Sarar Mohamed; Ebtisam El-Meleagy; Abdelhaleem Nasr; Merel S. Ebberink; Ronald J πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 93 KB πŸ‘ 2 views

## Abstract Peroxisomal biogenesis disorders (PBD) are groups of inherited neurometabolic disorders caused by defects in PEX genes. We report on a female infant, born to a consanguineous parents (first degree cousins), who presented with inactivity, poor sucking, and hypotonia early in the neonatal