Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation.
about
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsPost mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.Mitochondrial diseases: a nosological update.Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.
P2860
Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation.
description
2004 nî lūn-bûn
@nan
2004 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Hepato-cerebral syndrome: gene ...... an infant with a dGK mutation.
@ast
Hepato-cerebral syndrome: gene ...... an infant with a dGK mutation.
@en
Hepato-cerebral syndrome: gene ...... an infant with a dGK mutation.
@nl
type
label
Hepato-cerebral syndrome: gene ...... an infant with a dGK mutation.
@ast
Hepato-cerebral syndrome: gene ...... an infant with a dGK mutation.
@en
Hepato-cerebral syndrome: gene ...... an infant with a dGK mutation.
@nl
prefLabel
Hepato-cerebral syndrome: gene ...... an infant with a dGK mutation.
@ast
Hepato-cerebral syndrome: gene ...... an infant with a dGK mutation.
@en
Hepato-cerebral syndrome: gene ...... an infant with a dGK mutation.
@nl
P2093
P1476
Hepato-cerebral syndrome: gene ...... an infant with a dGK mutation.
@en
P2093
Alessandro Simonati
Bernardo Dalla Bernardina
Giuliano Tomelleri
Massimiliano Filosto
Michelangelo Mancuso
Nicolo Rizzuto
P2888
P304
P356
10.1007/S00401-004-0872-9
P577
2004-05-19T00:00:00Z
P6179
1047423193