Progressive neuronal degeneration of childhood with liver disease (Alpers' disease) presenting in young adults.
about
Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care teamAlpers-Huttenlocher syndromeInappropriate liver transplantation in a child with Alpers-Huttenlocher syndrome misdiagnosed as valproate-induced acute liver failureShort-term cuprizone feeding induces selective amino acid deprivation with concomitant activation of an integrated stress response in oligodendrocytes.Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.Pulvinar sign in acute disseminated encephalomyelitis.Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy.Evidence that Alpers-Huttenlocher syndrome could be a mitochondrial disease.
P2860
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P2860
Progressive neuronal degeneration of childhood with liver disease (Alpers' disease) presenting in young adults.
description
1995 nî lūn-bûn
@nan
1995 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մարտին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Progressive neuronal degenerat ...... e) presenting in young adults.
@ast
Progressive neuronal degenerat ...... e) presenting in young adults.
@en
type
label
Progressive neuronal degenerat ...... e) presenting in young adults.
@ast
Progressive neuronal degenerat ...... e) presenting in young adults.
@en
prefLabel
Progressive neuronal degenerat ...... e) presenting in young adults.
@ast
Progressive neuronal degenerat ...... e) presenting in young adults.
@en
P2093
P2860
P356
P1476
Progressive neuronal degenerat ...... e) presenting in young adults.
@en
P2093
Alsanjari N
Harding AE
Harding BN
Scaravilli F
P2860
P304
P356
10.1136/JNNP.58.3.320
P407
P577
1995-03-01T00:00:00Z