THE M405V ALLELE OF THE GLUTARYL-CoA DEHYDROGENASE GENE IS COMMON AMONG MANY GLUTARIC ACIDURIA TYPE I (GA-I) LOW EXCRETORS

被引：0

作者：

Schillaci, Lori-Anne ^{[1
]}

Greene, Carol ^{[2
]}

Strovel, Erin ^{[2
]}

Rispoli-Joines, Jessica ^{[2
]}

Spector, Elaine ^{[3
]}

Woontner, Michael ^{[3
]}

Scharer, Gunter ^{[3
]}

Enns, Gregory ^{[4
]}

Gallagher, Renata ^{[5
]}

Zinn, Arthur ^{[1
,7
]}

McCandless, Shawn ^{[1
,6
,7
]}

Hoppel, Charles ^{[1
,8
,9
]}

Goodman, Stephen ^{[3
]}

Bedoyan, Jirair ^{[1
,6
,7
]}

机构：

[1] Univ Hosp Case Med Ctr, Ctr Human Genet, Cleveland, OH USA

[2] Univ Maryland, Dept Pediat, Baltimore, MD 21201 USA

[3] Univ Colorado, Sch Med, Dept Pediat, Denver, CO USA

[4] Stanford Univ, Sch Med, Dept Pediat, Div Genet, Stanford, CA 94305 USA

[5] Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA

[6] Case Western Reserve Univ, Genet & Genome Sci, Cleveland, OH 44106 USA

[7] Univ Hosp Case Med Ctr, CIDEM, Cleveland, OH USA

[8] Case Western Reserve Univ, Dept Pharmacol, Cleveland, OH 44106 USA

[9] Case Western Reserve Univ, Dept Med, Cleveland, OH 44106 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2016年 / 117卷 / 03期

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

100

引用

页码：283 / 283

页数：1

共 30 条

[1] The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors
Schillaci, Lori-Anne P.
Greene, Carol L.
Strovel, Erin
Rispoli-Joines, Jessica
Spector, Elaine
Woontner, Michael
Scharer, Gunter
Enns, Gregory M.
Gallagher, Renata
Zinn, Arthur B.
McCandless, Shawn E.
Hoppel, Charles L.
Goodman, Stephen I.
Bedoyan, Jirair K.
MOLECULAR GENETICS AND METABOLISM, 2016, 119 (1-2) : 50 - 56
[2] Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)
Neumaier-Probst, E
Harting, I
Seitz, A
Ding, C
Kölker, S
JOURNAL OF INHERITED METABOLIC DISEASE, 2004, 27 (06) : 869 - 876
[3] Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity
Pineda, M
Ribes, A
Busquets, C
Vilaseca, MA
Aracil, A
Christensen, E
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 1998, 40 (12): : 840 - 842
[4] Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
Koelker, S.
Christensen, E.
Leonard, J. V.
Greenberg, C. R.
Burlina, A. B.
Burlina, A. P.
Dixon, M.
Duran, M.
Goodman, S. I.
Koeller, D. M.
Mueller, E.
Naughten, E. R.
Neumaier-Probst, E.
Okun, J. G.
Kyllerman, M.
Surtees, R. A.
Wilcken, B.
Hoffmann, G. F.
Burgard, P.
JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 (01) : 5 - 22
[5] Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I
Ikeda, H
Kimura, T
Ikegami, T
Kato, M
Matsunaga, A
Yokoyama, S
Yamaguchi, S
Ohura, T
Hayasaka, K
AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 80 (04): : 327 - 329
[6] Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I - Study from South India
Devi, A. Radha Rama
Ramesh, Vakkalagadda A.
Nagarajaram, H. A.
Satish, S. P. S.
Jayanthi, U.
Lingappa, Lokesh
BRAIN & DEVELOPMENT, 2016, 38 (01): : 54 - 60
[7] Novel mutations of the glutaryl-CoA dehydrogenase gene in three Chinese patients with glutaric aciduria type I.
Tang, NLS
Law, LK
Hui, J
Cheung, KL
Lam, YY
Yeung, WL
Fok, TF
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A430 - A430
[8] Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
Lehnert, W
Sass, JO
MEDICAL HYPOTHESES, 2005, 65 (02) : 330 - 333
[9] The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I
M. Schwartz
Ernst Christensen
Andrea Superti-Furga
Niels Jacob Brandt
Human Genetics, 1998, 102 : 452 - 458
[10] The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I
Schwartz, M
Christensen, E
Superti-Furga, A
Brandt, NJ
HUMAN GENETICS, 1998, 102 (04) : 452 - 458

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