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Maintenance treatment of glutaryl-CoA dehydrogenase deficiency

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Maintenance treatment of glutaryl-CoA dehydrogenase deficiency. / Mühlhausen, C; Hoffmann, G F; Strauss, K A; Kölker, S; Okun, J G; Greenberg, C R; Naughten, E R; Ullrich, K.

in: J INHERIT METAB DIS, Jahrgang 27, Nr. 6, 2004, S. 885-92.

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

Harvard

Mühlhausen, C, Hoffmann, GF, Strauss, KA, Kölker, S, Okun, JG, Greenberg, CR, Naughten, ER & Ullrich, K 2004, 'Maintenance treatment of glutaryl-CoA dehydrogenase deficiency', J INHERIT METAB DIS, Jg. 27, Nr. 6, S. 885-92. https://doi.org/10.1023/B:BOLI.0000045773.07785.83

APA

Mühlhausen, C., Hoffmann, G. F., Strauss, K. A., Kölker, S., Okun, J. G., Greenberg, C. R., Naughten, E. R., & Ullrich, K. (2004). Maintenance treatment of glutaryl-CoA dehydrogenase deficiency. J INHERIT METAB DIS, 27(6), 885-92. https://doi.org/10.1023/B:BOLI.0000045773.07785.83

Vancouver

Mühlhausen C, Hoffmann GF, Strauss KA, Kölker S, Okun JG, Greenberg CR et al. Maintenance treatment of glutaryl-CoA dehydrogenase deficiency. J INHERIT METAB DIS. 2004;27(6):885-92. https://doi.org/10.1023/B:BOLI.0000045773.07785.83

Bibtex

@article{57084825a2b54e2e82e619de55421210,
title = "Maintenance treatment of glutaryl-CoA dehydrogenase deficiency",
abstract = "This paper summarizes the published experience as well as results of the 3rd International Workshop on Glutaryl-CoA Dehydrogenase Deficiency held in October 2003 in Heidelberg, Germany, on the topic treatment of patients with glutaryl-CoA dehydrogenase (GCDH) deficiency. So far no international recommendation for treatment of GCDH deficiency exists. Such an approach is hampered by several facts, namely the lack of an in-depth understanding of the pathophysiology of the disease, the lack of prospective studies, including the evaluation of drug monotherapy, and lack of objective documentation of clinical changes (e.g. video documentation) during pharmacotherapy.",
keywords = "Amino Acid Metabolism, Inborn Errors, Animals, Antioxidants, Carnitine, Glutaryl-CoA Dehydrogenase, Humans, Monitoring, Physiologic, Nervous System Diseases, Oxidoreductases Acting on CH-CH Group Donors, Riboflavin",
author = "C M{\"u}hlhausen and Hoffmann, {G F} and Strauss, {K A} and S K{\"o}lker and Okun, {J G} and Greenberg, {C R} and Naughten, {E R} and K Ullrich",
year = "2004",
doi = "10.1023/B:BOLI.0000045773.07785.83",
language = "English",
volume = "27",
pages = "885--92",
journal = "J INHERIT METAB DIS",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "6",

}

RIS

TY - JOUR

T1 - Maintenance treatment of glutaryl-CoA dehydrogenase deficiency

AU - Mühlhausen, C

AU - Hoffmann, G F

AU - Strauss, K A

AU - Kölker, S

AU - Okun, J G

AU - Greenberg, C R

AU - Naughten, E R

AU - Ullrich, K

PY - 2004

Y1 - 2004

N2 - This paper summarizes the published experience as well as results of the 3rd International Workshop on Glutaryl-CoA Dehydrogenase Deficiency held in October 2003 in Heidelberg, Germany, on the topic treatment of patients with glutaryl-CoA dehydrogenase (GCDH) deficiency. So far no international recommendation for treatment of GCDH deficiency exists. Such an approach is hampered by several facts, namely the lack of an in-depth understanding of the pathophysiology of the disease, the lack of prospective studies, including the evaluation of drug monotherapy, and lack of objective documentation of clinical changes (e.g. video documentation) during pharmacotherapy.

AB - This paper summarizes the published experience as well as results of the 3rd International Workshop on Glutaryl-CoA Dehydrogenase Deficiency held in October 2003 in Heidelberg, Germany, on the topic treatment of patients with glutaryl-CoA dehydrogenase (GCDH) deficiency. So far no international recommendation for treatment of GCDH deficiency exists. Such an approach is hampered by several facts, namely the lack of an in-depth understanding of the pathophysiology of the disease, the lack of prospective studies, including the evaluation of drug monotherapy, and lack of objective documentation of clinical changes (e.g. video documentation) during pharmacotherapy.

KW - Amino Acid Metabolism, Inborn Errors

KW - Animals

KW - Antioxidants

KW - Carnitine

KW - Glutaryl-CoA Dehydrogenase

KW - Humans

KW - Monitoring, Physiologic

KW - Nervous System Diseases

KW - Oxidoreductases Acting on CH-CH Group Donors

KW - Riboflavin

U2 - 10.1023/B:BOLI.0000045773.07785.83

DO - 10.1023/B:BOLI.0000045773.07785.83

M3 - SCORING: Journal article

C2 - 15505396

VL - 27

SP - 885

EP - 892

JO - J INHERIT METAB DIS

JF - J INHERIT METAB DIS

SN - 0141-8955

IS - 6

ER -