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Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approachNatural history of Barth syndrome: a national cohort study of 22 patients.New clinical and molecular insights on Barth syndromeA novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection.Inborn errors of metabolism underlying primary immunodeficiencies.Mis-sesnse mutations in Tafazzin (TAZ) that escort to mild clinical symptoms of Barth syndrome is owed to the minimal inhibitory effect of the mutations on the enzyme function: In-silico evidence.
P2860
description
article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
Eponym: Barth syndrome.
@en
Eponym: Barth syndrome.
@nl
type
label
Eponym: Barth syndrome.
@en
Eponym: Barth syndrome.
@nl
prefLabel
Eponym: Barth syndrome.
@en
Eponym: Barth syndrome.
@nl
P2093
P2860
P1476
Eponym: Barth syndrome.
@en
P2093
Akira Sudo
Atsuhito Takeda
Gaku Izumi
Hirokuni Yamazawa
Masafumi Yamada
Tadashi Ariga
P2860
P2888
P304
P356
10.1007/S00431-011-1575-6
P577
2011-09-23T00:00:00Z