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Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.

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Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. / Mühlhausen, C; Christensen, E; Schwartz, M; Muschol, N; Ullrich, K; Lukacs, Z.

in: J INHERIT METAB DIS, Jahrgang 26, Nr. 7, 7, 2003, S. 713-714.

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

Harvard

Mühlhausen, C, Christensen, E, Schwartz, M, Muschol, N, Ullrich, K & Lukacs, Z 2003, 'Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.', J INHERIT METAB DIS, Jg. 26, Nr. 7, 7, S. 713-714. https://doi.org/10.1023/b:boli.0000005604.90621.e2

APA

Mühlhausen, C., Christensen, E., Schwartz, M., Muschol, N., Ullrich, K., & Lukacs, Z. (2003). Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. J INHERIT METAB DIS, 26(7), 713-714. [7]. https://doi.org/10.1023/b:boli.0000005604.90621.e2

Vancouver

Mühlhausen C, Christensen E, Schwartz M, Muschol N, Ullrich K, Lukacs Z. Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. J INHERIT METAB DIS. 2003;26(7):713-714. 7. https://doi.org/10.1023/b:boli.0000005604.90621.e2

Bibtex

@article{031f633c6a154a9199c329df9f700725,
title = "Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.",
abstract = "We report the first patient with the homozygous GCDH mutation M263V, displaying a high residual activity in fibroblasts of 30%, but presenting with a severe clinical phenotype.",
keywords = "DNA Mutational Analysis, Female, Fibroblasts, Genotype, Glutarates, Glutaryl-CoA Dehydrogenase, Humans, Infant, Lipid Metabolism, Inborn Errors, Oxidoreductases Acting on CH-CH Group Donors, Phenotype",
author = "C M{\"u}hlhausen and E Christensen and M Schwartz and N Muschol and K Ullrich and Z Lukacs",
year = "2003",
doi = "10.1023/b:boli.0000005604.90621.e2",
language = "English",
volume = "26",
pages = "713--714",
journal = "J INHERIT METAB DIS",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "7",

}

RIS

TY - JOUR

T1 - Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.

AU - Mühlhausen, C

AU - Christensen, E

AU - Schwartz, M

AU - Muschol, N

AU - Ullrich, K

AU - Lukacs, Z

PY - 2003

Y1 - 2003

N2 - We report the first patient with the homozygous GCDH mutation M263V, displaying a high residual activity in fibroblasts of 30%, but presenting with a severe clinical phenotype.

AB - We report the first patient with the homozygous GCDH mutation M263V, displaying a high residual activity in fibroblasts of 30%, but presenting with a severe clinical phenotype.

KW - DNA Mutational Analysis

KW - Female

KW - Fibroblasts

KW - Genotype

KW - Glutarates

KW - Glutaryl-CoA Dehydrogenase

KW - Humans

KW - Infant

KW - Lipid Metabolism, Inborn Errors

KW - Oxidoreductases Acting on CH-CH Group Donors

KW - Phenotype

U2 - 10.1023/b:boli.0000005604.90621.e2

DO - 10.1023/b:boli.0000005604.90621.e2

M3 - SCORING: Journal article

C2 - 14707522

VL - 26

SP - 713

EP - 714

JO - J INHERIT METAB DIS

JF - J INHERIT METAB DIS

SN - 0141-8955

IS - 7

M1 - 7

ER -