✦ LIBER ✦

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene

✍ Scribed by Osamu Sakamoto; Toshihiro Ohura; Kei Murayama; Akira Ohtake; Hiroko Harashima; Daiki Abukawa; Junji Takeyama; Kazuhiro Haginoya; Shigeaki Miyabayashi; Shigeo Kure

Book ID: 108973251
Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 1003 KB
Volume: 53
Category: Article
ISSN: 1328-8067
DOI: 10.1111/j.1442-200x.2011.03412.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Fatal infantile lactic acidosis and a no

Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: A mitochondrial DNA depletion disorder

✍ Linda M. Randolph; Hollie A. Jackson; Jing Wang; Hiroyuki Shimada; Pedro A. Sanc 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 378 KB

Marked mitochondrial DNA depletion assoc

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch

✍ Henry Rivera; Begoña Merinero; Mercedes Martinez-Pardo; Ignacio Arroyo; Pedro Ru 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 834 KB

Severe type I protein C deficiency with

Severe type I protein C deficiency with neonatal purpura fulminans due to a novel homozygous mutation in exon 6 of the protein C gene

✍ K. K. ABU-AMERO; T. M. OWAIDAH; M. AL-MAHED 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 177 KB

A family with osteoporosis pseudoglioma

A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene

✍ W.M.W. Cheung; L.Y. Jin; D.K. Smith; P.T. Cheung; E.Y.W. Kwan; L. Low; A.W.C. Ku 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 325 KB

Late-onset axial myopathy with cores due

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

✍ Heinz Jungbluth; Suzanne Lillis; Haiyan Zhou; Stephen Abbs; Caroline Sewry; Mich 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 338 KB

Molecular investigation and long-term cl

Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene

✍ M Feldman; M Prikis; Y Athanasiou; A Elia; A Pierides; CC Deltas 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 427 KB