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Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC

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Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC. / Jakubiczka, Sibylle; Bettecken, Thomas; Mohnike, Klaus; Schneppenheim, Reinhard; Stumm, Markus; Tönnies, Holger; Volleth, Marianne; Wieacker, Peter.

in: EUR J PEDIATR, Jahrgang 166, Nr. 7, 07.2007, S. 743-5.

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

Harvard

Jakubiczka, S, Bettecken, T, Mohnike, K, Schneppenheim, R, Stumm, M, Tönnies, H, Volleth, M & Wieacker, P 2007, 'Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC', EUR J PEDIATR, Jg. 166, Nr. 7, S. 743-5. https://doi.org/10.1007/s00431-006-0303-0

APA

Jakubiczka, S., Bettecken, T., Mohnike, K., Schneppenheim, R., Stumm, M., Tönnies, H., Volleth, M., & Wieacker, P. (2007). Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC. EUR J PEDIATR, 166(7), 743-5. https://doi.org/10.1007/s00431-006-0303-0

Vancouver

Jakubiczka S, Bettecken T, Mohnike K, Schneppenheim R, Stumm M, Tönnies H et al. Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC. EUR J PEDIATR. 2007 Jul;166(7):743-5. https://doi.org/10.1007/s00431-006-0303-0

Bibtex

@article{925d0566696b45b2a17d2fcbafab36fe,
title = "Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC",
abstract = "A contiguous deletion encompassing the genes for dystrophin, cytochrome b(-245) beta-subunit (CYBB), retinitis pigmentosa GTPase regulator (RPGR), and OTC was detected in a female patient only suffering from OTC deficiency while symptoms of the other conditions were not present.",
keywords = "Child, Preschool, Chromosomes, Human, X, Dystrophin, Eye Proteins, Female, Gene Deletion, Heterozygote, Humans, Membrane Glycoproteins, NADPH Oxidase, Ornithine Carbamoyltransferase Deficiency Disease, Pedigree",
author = "Sibylle Jakubiczka and Thomas Bettecken and Klaus Mohnike and Reinhard Schneppenheim and Markus Stumm and Holger T{\"o}nnies and Marianne Volleth and Peter Wieacker",
year = "2007",
month = jul,
doi = "10.1007/s00431-006-0303-0",
language = "English",
volume = "166",
pages = "743--5",
journal = "EUR J PEDIATR",
issn = "0340-6199",
publisher = "Springer",
number = "7",

}

RIS

TY - JOUR

T1 - Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC

AU - Jakubiczka, Sibylle

AU - Bettecken, Thomas

AU - Mohnike, Klaus

AU - Schneppenheim, Reinhard

AU - Stumm, Markus

AU - Tönnies, Holger

AU - Volleth, Marianne

AU - Wieacker, Peter

PY - 2007/7

Y1 - 2007/7

N2 - A contiguous deletion encompassing the genes for dystrophin, cytochrome b(-245) beta-subunit (CYBB), retinitis pigmentosa GTPase regulator (RPGR), and OTC was detected in a female patient only suffering from OTC deficiency while symptoms of the other conditions were not present.

AB - A contiguous deletion encompassing the genes for dystrophin, cytochrome b(-245) beta-subunit (CYBB), retinitis pigmentosa GTPase regulator (RPGR), and OTC was detected in a female patient only suffering from OTC deficiency while symptoms of the other conditions were not present.

KW - Child, Preschool

KW - Chromosomes, Human, X

KW - Dystrophin

KW - Eye Proteins

KW - Female

KW - Gene Deletion

KW - Heterozygote

KW - Humans

KW - Membrane Glycoproteins

KW - NADPH Oxidase

KW - Ornithine Carbamoyltransferase Deficiency Disease

KW - Pedigree

U2 - 10.1007/s00431-006-0303-0

DO - 10.1007/s00431-006-0303-0

M3 - SCORING: Journal article

C2 - 17091258

VL - 166

SP - 743

EP - 745

JO - EUR J PEDIATR

JF - EUR J PEDIATR

SN - 0340-6199

IS - 7

ER -