Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: Identification of a novel variant

2012 ◽  
Vol 45 (15) ◽  
pp. 1167-1172 ◽  
Author(s):  
Georgia Thodi ◽  
Vassiliki Georgiou ◽  
Elina Molou ◽  
Yannis L. Loukas ◽  
Yannis Dotsikas ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Molecular Spectrum ◽  
Medium Chain ◽  
Chain Acyl ◽  
Novel Variant ◽  
Cohort Identification

scholarly journals Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.

1990 ◽  
Vol 87 (23) ◽  
pp. 9236-9240 ◽  
Author(s):  
D. P. Kelly ◽  
A. J. Whelan ◽  
M. L. Ogden ◽  
R. Alpers ◽  
Z. F. Zhang ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Dehydrogenase Deficiency ◽  
Medium Chain ◽  
Chain Acyl

scholarly journals Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain Acyl-CoA dehydrogenase deficiency

1991 ◽  
Vol 14 (3) ◽  
pp. 314-316 ◽  
Author(s):  
N. Gregersen ◽  
B. S. Andresen ◽  
P. Bross ◽  
V. Winter ◽  
N. Rüdiger ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Medium Chain ◽  
Chain Acyl

Delayed diagnosis of fatal medium-chain acyl-CoA dehydrogenase deficiency in a child

1999 ◽  
Vol 15 (6) ◽  
pp. 399-401 ◽  
Author(s):  
AVINASH K. SHETTY ◽  
RANDALL D. CRAVER ◽  
JUDITH A. HARRIS ◽  
EBERHARD SCHMIDT-SOMMERFELD
Keyword(s):  
Dehydrogenase Deficiency ◽  
Delayed Diagnosis ◽  
Medium Chain ◽  
Chain Acyl

A fatal neonatal case of medium-chain acyl-coenzyme a dehydrogenase deficiency with homozygous A→G985 transition

1992 ◽  
Vol 121 (6) ◽  
pp. 965-968 ◽  
Author(s):  
Kin-Chuen Leung ◽  
Judith W. Hammond ◽  
Shilpi Chabra ◽  
Kevin H. Carpenter ◽  
Mary Potter ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Medium Chain ◽  
Chain Acyl ◽  
Acyl Coenzyme A

Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency

The Lancet ◽  
2002 ◽  
Vol 359 (9306) ◽  
pp. 627-628 ◽  
Author(s):  
Bridget Wilcken ◽  
Kevin Carpenter ◽  
Veronica Wiley
Keyword(s):  
Neonatal Screening ◽  
Dehydrogenase Deficiency ◽  
Medium Chain ◽  
Chain Acyl

Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome

1993 ◽  
Vol 122 (5) ◽  
pp. 715-718 ◽  
Author(s):  
Raanan Arens ◽  
David Gozal ◽  
Karen Jain ◽  
Shamshad Muscati ◽  
Eva T. Heuser ◽  
...  
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Infant Death ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Medium Chain ◽  
Chain Acyl ◽  
Acyl Coenzyme A
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