Peripheral neuropathy and cognitive impairment associated with a novel monoallelic <i><scp>HARS</scp></i> variant
Béryl Royer‐Bertrand(University of Lausanne), Christel Tran(University of Lausanne), Alexander Lobrinus(University Hospital of Geneva), Lauréane Mittaz Crettol, Belinda Campos‐Xavier(University of Lausanne), Andrea Superti‐Furga(University of Lausanne), Thierry Küntzer(University of Lausanne), Christopher S. Francklyn(University of Vermont), Patrick Mullen(University of Vermont), Matthias R. Baumgartner(University Children's Hospital Zurich), Joseph Ghika(University Hospital of Lausanne), Pinelopi Tsouni(Centre Hospitalier Universitaire Vaudois), Carlo Rivolta(University of Lausanne)
Cited by 19
Related Papers
Nosology and classification of genetic skeletal disorders: 2010 revision
|American Journal of Medical Genetics Part A|2011|717
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
|Orphanet Journal of Rare Diseases|2014|713
Nosology and classification of genetic skeletal disorders: 2019 revision
|American Journal of Medical Genetics Part A|2019|620
Nosology and classification of genetic skeletal disorders: 2015 revision
|American Journal of Medical Genetics Part A|2015|570
Vitamin B<sub>12</sub>, folate, and the methionine remethylation cycle—biochemistry, pathways, and regulation
|Journal of Inherited Metabolic Disease|2019|434