Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.
about
Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth SyndromeThe cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndromeBarth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell StudiesBarth syndrome.Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissuesMetabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular FunctionBarth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation).X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.Psychosocial Functioning in Youth with Barth Syndrome.Neutrophil disorders and their management.X chromosome inactivation in carriers of Barth syndrome.Barth syndrome is associated with a cognitive phenotype.Natural history of Barth syndrome: a national cohort study of 22 patients.The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.Barth syndrome, a human disorder of cardiolipin metabolism.The power of yeast to model diseases of the powerhouse of the cell.A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome.Eponym: Barth syndrome.Mitochondrial phospholipids: role in mitochondrial function.Reduction in cholesterol synthesis in response to serum starvation in lymphoblasts of a patient with Barth syndrome.New targets for monitoring and therapy in Barth syndrome.Influence of tissue, diet, and enzymatic remodeling on cardiolipin fatty acyl profile.The cellular and molecular mechanisms for neutropenia in Barth syndrome.Characterization of lymphoblast mitochondria from patients with Barth syndrome.Overexpression of mitochondrial oxodicarboxylate carrier (ODC1) preserves oxidative phosphorylation in a yeast model of Barth syndrome.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.Clinicopathologic conference: Barth Syndrome.Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing.XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.
P2860
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P2860
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.
description
1993 nî lūn-bûn
@nan
1993 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.
@ast
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.
@en
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.
@nl
type
label
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.
@ast
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.
@en
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.
@nl
prefLabel
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.
@ast
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.
@en
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.
@nl
P2093
P356
P1476
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28
@en
P2093
Partington MW
Sillence DO
P304
P356
10.1002/AJMG.1320450309
P50
P577
1993-02-01T00:00:00Z