✦ LIBER ✦

Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings

✍ Scribed by João P. Soares-Fernandes; Roseli Teixeira-Gomes; Romeu Cruz; Manuel Ribeiro; Zita Magalhães; Jaime F. Rocha; Lara M. Leijser

Book ID: 105940882
Publisher: Springer-Verlag
Year: 2008
Tongue: English
Weight: 193 KB
Volume: 38
Category: Article
ISSN: 0301-0449
DOI: 10.1007/s00247-007-0721-9

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in the X-linked pyruvate dehyd

Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

✍ Willy Lissens; Linda De Meirleir; Sara Seneca; Inge Liebaers; Garry K. Brown; Ru 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 290 KB 👁 1 views

Communicated by

A new case of pyruvate dehydrogenase def

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the pdx1 gene

✍ Runu Dey; Manuele Mine; Isabelle Desguerre; Abdelhamid Slama; Loic Van Den Bergh 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 175 KB 👁 2 views

Leigh syndrome due to pyruvate dehydroge

Leigh syndrome due to pyruvate dehydrogenase E1α deficiency (point mutation R263G) in a Spanish boy

✍ P. Briones; M. J. López; L. De Meirleir; A. Ribes; M. Rodés; C. Martinez-Costa; 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 167 KB

Mutation of E1α gene in a female patient

Mutation of E1α gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein

✍ M. Ito; A. H. M. M. Huq; E. Naito; T. Saijo; E. Takeda; Y. Kuroda 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 885 KB

Recessive hyperekplexia due to a new mut

Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene

✍ Eliecer Coto; Daniel Armenta; Raúl Espinosa; Joaquín Argente; Mónica G. Castro; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 65 KB

## Abstract Hyperekplexia is commonly familial and with dominant transmission. The gene involved, __GLRA1,__ encodes the α1 subunit of the glycine receptor. We describe 3 affected children homozygous for a new mutation, R100H. Both parents were heterozygous carriers; while the father was healthy, t

A family with pyruvate dehydrogenase com

A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Ε1α gene

✍ Már Tulinius; Niklas Darin; Lars-Martin Wiklund; Eva Holmberg; Jan Erik Eriksson 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 416 KB