about
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletionA recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease.Mitochondrial disease in childhood: nuclear encodedA novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNAEpilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.Inherited mitochondrial DNA depletion.Diseases caused by nuclear genes affecting mtDNA stability.Diagnosis and treatment of childhood mitochondrial diseases.Infantile mitochondrial disorders.Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures.Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.Mitochondrial dysfunction in human breast cancer cells and their transmitochondrial cybrids.B cell receptor signaling regulates metabolism in Chronic Lymphocytic Leukemia.Release of replication termination controls mitochondrial DNA copy number after depletion with 2',3'-dideoxycytidine.VDAC3 has differing mitochondrial functions in two types of striated muscles.Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria.Clinical characteristics and muscle pathology in myopathic mitochondrial DNA depletion.Mitochondrial DNA dysfunction in oncocytic hepatocytes.Mitochondrial encephalomyopathies: diagnostic approach.Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disordersSíndrome psicótica evoluindo com demência como manifestação clinica de deleção do DNA mitocondrial
P2860
Q24530876-F7630D3B-2223-456D-B181-45DB86B4158FQ24533422-AA5126FF-C53F-4D47-87ED-93E4AF0D8103Q26820866-54A44358-6ED5-44DE-BA78-7C4CB50FE575Q28220775-7154E9B7-3D44-4866-9F11-383939BC63C8Q30248334-4E5AC4A7-2D44-45DA-A0CF-D0EEA5C4695EQ34195471-976E48EF-FF8B-4F68-9BAE-DFF2F1B929EFQ34386744-C1CB5412-9BA2-4AAB-909A-3C530468EBDBQ34566415-B5B167AC-868D-40E4-9D02-2692DE2963AFQ34626326-EE22D70E-E1D3-46D3-B029-1F00B3252E4AQ34662310-B1A16FFF-4EEF-49B5-946C-4A61CFB5AB52Q35787268-146328F3-B01E-4EB1-ABA2-B7433E056B65Q36744667-583E28CE-6836-4C5A-A359-F897F1F67F66Q37455446-BA512583-AFFE-4F14-8924-0AAFF0FA4D43Q38611244-AC826723-4C28-4F4B-B6FA-777CAC774CEDQ39600677-BF581B89-E187-4A71-B297-AA6F52FE2C07Q41162125-192E7D7C-4796-4C2D-A904-E6C81302568AQ43567904-8111256D-2554-4BCA-B281-404FEA886F9EQ44147990-4D9430AB-2991-48C6-944C-C9BF79123BF9Q44716326-101244B5-3341-4478-9BF4-4F0D286CA61FQ47652386-1664C8AB-1759-4F05-AF19-2831D52B58C9Q57588340-FE45812A-CA62-4104-92E8-E7C3633E9C01Q57611039-180C8816-6BD0-4049-BDCD-AF015A114A42
P2860
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh-hant
name
Clinical manifestations of mitochondrial DNA depletion.
@en
Clinical manifestations of mitochondrial DNA depletion.
@nl
type
label
Clinical manifestations of mitochondrial DNA depletion.
@en
Clinical manifestations of mitochondrial DNA depletion.
@nl
prefLabel
Clinical manifestations of mitochondrial DNA depletion.
@en
Clinical manifestations of mitochondrial DNA depletion.
@nl
P2093
P356
P1433
P1476
Clinical manifestations of mitochondrial DNA depletion.
@en
P2093
Chatkupt S
Koenigsberger MR
Maertens P
P304
P356
10.1212/WNL.50.6.1783
P407
P577
1998-06-01T00:00:00Z