The Diagnosis and Treatment of a Patient with Medium-chain Acyl-CoA Dehydrogenase Deficiency: Overnight Fasting Does Not Result in the Expected Urinary Metabolite Profile

1986 ◽  
pp. 293-296
Author(s):  
A. H. Van Gennip ◽  
H. D. Bakker ◽  
M. Duran ◽  
L. J. Van Oudheusden
Keyword(s):  
Dehydrogenase Deficiency ◽  
Metabolite Profile ◽  
Diagnosis And Treatment ◽  
Urinary Metabolite ◽  
Medium Chain ◽  
Chain Acyl ◽  
Overnight Fasting

Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: Report of two siblings

1990 ◽  
Vol 149 (8) ◽  
pp. 577-581 ◽  
Author(s):  
C. Catzeflis ◽  
C. Bachmann ◽  
D. E. Hale ◽  
P. M. Coates ◽  
U. Wiesmann ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Dehydrogenase Deficiency ◽  
Diagnosis And Treatment ◽  
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

scholarly journals Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency

2011 ◽  
Vol 31 (1) ◽  
pp. 54-60 ◽  
Author(s):  
Hye In Woo ◽  
Hyung-Doo Park ◽  
Yong-Wha Lee ◽  
Dong Hwan Lee ◽  
Chang-Seok Ki ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Genetic Analyses ◽  
Medium Chain ◽  
Korean Patients ◽  
Chain Acyl
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