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Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.

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Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. / Valianpour, Fredoen; Wanders, Ronald J A; Overmars, Henk; Vreken, Peter; Gennip, Van; Albert, H; Baas, Frank; Santer, René; Santer, Rene; Becker, Kolja; Barth, Peter G.

in: J PEDIATR-US, Jahrgang 141, Nr. 5, 5, 2002, S. 729-733.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Valianpour, F, Wanders, RJA, Overmars, H, Vreken, P, Gennip, V, Albert, H, Baas, F, Santer, R, Santer, R, Becker, K & Barth, PG 2002, 'Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.', J PEDIATR-US, Jg. 141, Nr. 5, 5, S. 729-733. <http://www.ncbi.nlm.nih.gov/pubmed/12410207?dopt=Citation>

APA

Valianpour, F., Wanders, R. J. A., Overmars, H., Vreken, P., Gennip, V., Albert, H., Baas, F., Santer, R., Santer, R., Becker, K., & Barth, P. G. (2002). Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. J PEDIATR-US, 141(5), 729-733. [5]. http://www.ncbi.nlm.nih.gov/pubmed/12410207?dopt=Citation

Vancouver

Valianpour F, Wanders RJA, Overmars H, Vreken P, Gennip V, Albert H et al. Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. J PEDIATR-US. 2002;141(5):729-733. 5.

Bibtex

@article{5795d0e87d8544eda890763b24906dbc,
title = "Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.",
abstract = "We determined cardiolipin concentrations in cultured skin fibroblasts of 5 patients with X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060) and in two groups of control patients. High-performance liquid chromatography-electrospray mass spectrometry was used to quantify total cardiolipin and subclasses of cardiolipin molecular species in cultured skin fibroblasts. Total cardiolipin and cardiolipin subclasses were decreased in patients with Barth syndrome as compared with normal control patients and disease control patients. Patients with Barth syndrome have a specific decrease of various cardiolipin molecular species, foremost tetralineoyl-cardiolipin. Therefore the analysis of cardiolipin in fibroblasts offers a specific biochemical approach to detect this disorder.",
author = "Fredoen Valianpour and Wanders, {Ronald J A} and Henk Overmars and Peter Vreken and Van Gennip and H Albert and Frank Baas and Ren{\'e} Santer and Rene Santer and Kolja Becker and Barth, {Peter G}",
year = "2002",
language = "Deutsch",
volume = "141",
pages = "729--733",
journal = "J PEDIATR-US",
issn = "0022-3476",
publisher = "Mosby Inc.",
number = "5",

}

RIS

TY - JOUR

T1 - Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.

AU - Valianpour, Fredoen

AU - Wanders, Ronald J A

AU - Overmars, Henk

AU - Vreken, Peter

AU - Gennip, Van

AU - Albert, H

AU - Baas, Frank

AU - Santer, René

AU - Santer, Rene

AU - Becker, Kolja

AU - Barth, Peter G

PY - 2002

Y1 - 2002

N2 - We determined cardiolipin concentrations in cultured skin fibroblasts of 5 patients with X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060) and in two groups of control patients. High-performance liquid chromatography-electrospray mass spectrometry was used to quantify total cardiolipin and subclasses of cardiolipin molecular species in cultured skin fibroblasts. Total cardiolipin and cardiolipin subclasses were decreased in patients with Barth syndrome as compared with normal control patients and disease control patients. Patients with Barth syndrome have a specific decrease of various cardiolipin molecular species, foremost tetralineoyl-cardiolipin. Therefore the analysis of cardiolipin in fibroblasts offers a specific biochemical approach to detect this disorder.

AB - We determined cardiolipin concentrations in cultured skin fibroblasts of 5 patients with X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060) and in two groups of control patients. High-performance liquid chromatography-electrospray mass spectrometry was used to quantify total cardiolipin and subclasses of cardiolipin molecular species in cultured skin fibroblasts. Total cardiolipin and cardiolipin subclasses were decreased in patients with Barth syndrome as compared with normal control patients and disease control patients. Patients with Barth syndrome have a specific decrease of various cardiolipin molecular species, foremost tetralineoyl-cardiolipin. Therefore the analysis of cardiolipin in fibroblasts offers a specific biochemical approach to detect this disorder.

M3 - SCORING: Zeitschriftenaufsatz

VL - 141

SP - 729

EP - 733

JO - J PEDIATR-US

JF - J PEDIATR-US

SN - 0022-3476

IS - 5

M1 - 5

ER -