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Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families
Prenatal Diagnosis
◽
10.1002/pd.392
◽
2002
◽
Vol 22
(8)
◽
pp. 725-729
◽
Cited By ~ 23
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
Download Full-text
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References
Case Report: Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: A novel mutation in a Turkish patient with glutaric aciduria type I
Journal of Inherited Metabolic Disease
◽
10.1023/b:boli.0000005604.90621.e2
◽
2003
◽
Vol 26
(7)
◽
pp. 713-714
◽
Cited By ~ 11
Author(s):
C. Mühlhausen
◽
E. Christensen
◽
M. Schwartz
◽
N. Muschol
◽
K. Ullrich
◽
...
Keyword(s):
Case Report
◽
Dehydrogenase Activity
◽
Novel Mutation
◽
Glutaric Aciduria Type
◽
Type I
◽
Severe Phenotype
◽
Turkish Patient
◽
Glutaric Aciduria
◽
Glutaric Aciduria Type I
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Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation
Journal of Cellular Biochemistry
◽
10.1002/jcb.27607
◽
2018
◽
Vol 120
(3)
◽
pp. 3367-3372
◽
Cited By ~ 1
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
Download Full-text
Use of guidelines improves the neurological outcome in glutaric aciduria type I
Neuropediatrics
◽
10.1055/s-0030-1265515
◽
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
Download Full-text
Development of Neuropsychological Functions in Patients with Glutaric Aciduria Type I
Neuropediatrics
◽
10.1055/s-0034-1390537
◽
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
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Glutaric aciduria type I: Pathomechanisms of neurodegeneration
Journal of Inherited Metabolic Disease
◽
10.1023/a:1005595921323
◽
1999
◽
Vol 22
(4)
◽
pp. 392-403
◽
Cited By ~ 72
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
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Early Detection of Glutaric Aciduria Type I by Newborn Screening in Taiwan
Journal of the Formosan Medical Association
◽
10.1016/s0929-6646(08)60127-8
◽
2008
◽
Vol 107
(2)
◽
pp. 139-144
◽
Cited By ~ 9
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
Download Full-text
Glutaric aciduria (type I): prenatal ultrasonographic findings
Ultrasound in Obstetrics and Gynecology
◽
10.1046/j.1469-0705.2002.00779_3.x
◽
2002
◽
Vol 20
(3)
◽
pp. 305-307
◽
Cited By ~ 9
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
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Glutaric aciduria (type I)
Atlas of Inherited Metabolic Diseases
◽
10.1201/9781315114033-9
◽
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
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Glutaric Aciduria Type I
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Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenase
JIMD Reports
◽
10.1002/jmd2.12026
◽
2019
◽
Vol 47
(1)
◽
pp. 30-34
◽
Cited By ~ 3
Author(s):
Verena Peters
◽
Marina Morath
◽
Matthias Mack
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Michael Liesert
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Wolfgang Buckel
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...
Keyword(s):
Glutaric Aciduria Type
◽
Type I
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Glutaric Aciduria
◽
Medium Chain
◽
Glutaric Aciduria Type I
◽
Chain Acyl
◽
Hydroxyglutaric Acid
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Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?
The Indian Journal of Pediatrics
◽
10.1007/s12098-019-03017-z
◽
2019
◽
Vol 86
(11)
◽
pp. 995-1001
◽
Cited By ~ 1
Author(s):
Muntaj Shaik
◽
Kruthika-Vinod T. P.
◽
Mahesh Kamate
◽
Vedamurthy A. B.
Keyword(s):
Newborn Screening
◽
Glutaric Aciduria Type
◽
Type I
◽
Glutaric Aciduria
◽
Glutaric Aciduria Type I
◽
Expanded Newborn Screening
Download Full-text
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