Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families

2002 ◽  
Vol 22 (8) ◽  
pp. 725-729 ◽  
Author(s):  
S. K. Lin ◽  
S. G. Hsu ◽  
E. S. C. Ho ◽  
C. R. Tsai ◽  
Y. T. Hseih ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation

2018 ◽  
Vol 120 (3) ◽  
pp. 3367-3372 ◽  
Author(s):  
Azam Ahmadi Shadmehri ◽  
Najmeh Fattahi ◽  
Mohammad Reza Pourreza ◽  
Mahboobeh Koohiyan ◽  
Shahnaz Zarifi ◽  
...  
Keyword(s):  
Genetic Study ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Molecular Genetic Study ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

Use of guidelines improves the neurological outcome in glutaric aciduria type I

2010 ◽  
Vol 41 (02) ◽  
Author(s):  
J Heringer ◽  
SPN Boy ◽  
R Ensenauer ◽  
B Assmann ◽  
J Zschocke ◽  
...  
Keyword(s):  
Neurological Outcome ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

Development of Neuropsychological Functions in Patients with Glutaric Aciduria Type I

2014 ◽  
Vol 45 (S 01) ◽  
Author(s):  
N. Boy ◽  
J. Heringer ◽  
G. Haege ◽  
E. Glahn ◽  
G. Hoffmann ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I ◽  
Neuropsychological Functions

scholarly journals Glutaric aciduria type I: Pathomechanisms of neurodegeneration

1999 ◽  
Vol 22 (4) ◽  
pp. 392-403 ◽  
Author(s):  
K. Ullrich ◽  
B. Flott-Rahmel ◽  
P. Schluff ◽  
U. Musshoff ◽  
A. Das ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

scholarly journals Early Detection of Glutaric Aciduria Type I by Newborn Screening in Taiwan

2008 ◽  
Vol 107 (2) ◽  
pp. 139-144 ◽  
Author(s):  
Chin-Tung Hsieh ◽  
Wuh-Liang Hwu ◽  
Yuan-Te Huang ◽  
Ai-Chu Huang ◽  
Shiao-Fang Wang ◽  
...  
Keyword(s):  
Early Detection ◽  
Newborn Screening ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

scholarly journals Glutaric aciduria (type I): prenatal ultrasonographic findings

2002 ◽  
Vol 20 (3) ◽  
pp. 305-307 ◽  
Author(s):  
S. K. Lin ◽  
S. G. Hsu ◽  
E. S. C. Ho ◽  
C. R. Tsai ◽  
Y. T. Hseih ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

Glutaric aciduria (type I)

2020 ◽  
pp. 70-81
Author(s):  
William L. Nyhan ◽  
Georg F. Hoffmann ◽  
Aida I. Al-Aqeel ◽  
Bruce A. Barshop
Keyword(s):  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

scholarly journals Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenase

JIMD Reports ◽  
2019 ◽  
Vol 47 (1) ◽  
pp. 30-34 ◽  
Author(s):  
Verena Peters ◽  
Marina Morath ◽  
Matthias Mack ◽  
Michael Liesert ◽  
Wolfgang Buckel ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Medium Chain ◽  
Glutaric Aciduria Type I ◽  
Chain Acyl ◽  
Hydroxyglutaric Acid
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