Maintenance treatment of glutaryl-CoA dehydrogenase deficiency
Standard
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, Vol. 27, No. 6, 2004, p. 885-92.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Harvard
APA
Vancouver
Bibtex
}
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 -