Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine
about
Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report.Gastrointestinal and hepatic manifestations of mitochondrial disorders.A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
P2860
Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine
description
2011 nî lūn-bûn
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2011年の論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年论文
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2011年论文
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2011年论文
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name
Two patients with hepatic mtDN ...... nosylmethionine and methionine
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Two patients with hepatic mtDN ...... nosylmethionine and methionine
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type
label
Two patients with hepatic mtDN ...... nosylmethionine and methionine
@ast
Two patients with hepatic mtDN ...... nosylmethionine and methionine
@en
prefLabel
Two patients with hepatic mtDN ...... nosylmethionine and methionine
@ast
Two patients with hepatic mtDN ...... nosylmethionine and methionine
@en
P2093
P2860
P1476
Two patients with hepatic mtDN ...... nosylmethionine and methionine
@en
P2093
Conrad Wagner
Lee-Jun Wong
Richard Schroer
Robert H Allen
S Harvey Mudd
Sally P Stabler
Timothy Wood
Zigmund Luka
P2860
P304
P356
10.1016/J.YMGME.2011.11.006
P577
2011-11-12T00:00:00Z