New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome
about
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsCentral nervous system manifestations of mitochondrial disorders.Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients.Mitochondrial DNA depletion syndrome due to mutations in the RRM2B geneGastrointestinal and hepatic manifestations of mitochondrial disorders.Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature.Liver pathology in infantile mitochondrial DNA depletion syndrome.A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.
P2860
Q26865135-27FBFF18-EC04-4C0B-A2F1-A9D59EF899C1Q31058031-CADF4771-E480-4030-B5EE-4C3F2E73CEDAQ33786829-6B1343AA-8898-4C4D-8B0A-DEFC2EC721EBQ36433363-BB00AE9B-CF4E-4CD6-A412-2E91B250D5C4Q37478833-8B644EB4-A732-4FC6-8644-D9F16D6B7081Q38106894-CBF04B45-C150-473B-9CA7-A7122D4AD43FQ38183355-0B39A690-E4A2-44D8-9337-BAF5BC875417Q46688067-B71CDB5F-DEA0-4076-B65A-583EFC2DDCFEQ47153173-1F2BF1D1-4C61-402B-AD9A-16F79E7478E4
P2860
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome
description
2005 nî lūn-bûn
@nan
2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome
@ast
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome
@en
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome
@nl
type
label
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome
@ast
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome
@en
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome
@nl
prefLabel
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome
@ast
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome
@en
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome
@nl
P2093
P1433
P1476
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome
@en
P2093
Annette Feigenbaum
David R Thorburn
Jacklyn Pancrudo
John Christodoulou
Julian Raiman
Michelangelo Mancuso
Silvio Ferraris
P356
10.1001/ARCHNEUR.62.5.745
P407
P577
2005-05-01T00:00:00Z