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Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene |
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| Authors: | Kurkina Marina V. Mihaylova Svetlana V. Baydakova Galina V. Saifullina Elena V. Korostelev Sergey A. Pyankov Denis V. Kanivets Ilya V. Yunin Maksim A. Pechatnikova Natalya L. Zakharova Ekaterina Y. |
| Affiliation: | 1.Federal State Budgetary Scientific Institution, Research Centre for Medical Genetics (FSBI, RCMG), Moskvorechie 1, Moscow, 115522, Russia ;2.Russian Children’s Clinical Hospital of the Federal Autonomous Educational Institute of Higher Education, Russian National Medical Research University named after N.I. Pyrogov, Ministry of Health of the Russian Federation, Moscow, Russia ;3.Bashkir State Medical University, Ufa, Russia ;4.Federal State Autonomous Educational Institution of Higher Education, I.M. Sechenov First Moscow State Medical University of the Ministry of Healthcare of the Russian Federation (Sechenovskiy University), Moscow, Russia ;5.Ministry of Health of the Russian Federation, Genomed ltd, Moscow, Russia ;6.Russian Medical Academy of Continuous Professional Education, Moscow, Russia ;7.Morozov Children’s City Clinical Hospital, Moscow, Russia ; |
| Abstract: | Metabolic Brain Disease - Glutaric aciduria type 1 (GA1, deficiency of glutaryl CoA dehydrogenase, glutaric acidemia type 1) (ICD-10 code: E72.3; MIM 231670) is an autosomal recessive disease... |
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