The Use of Phenylpropionic Acid as a Loading Test for Medium-Chain Acyl-CoA Dehydrogenase Deficiency

1988 ◽  
pp. 221-224 ◽  
Author(s):  
J. W. T. Seakins ◽  
G. Rumsby
Keyword(s):  
Dehydrogenase Deficiency ◽  
Loading Test ◽  
Phenylpropionic Acid ◽  
Medium Chain ◽  
Chain Acyl

Identification of phenylpropionylcarnitine, a new metabolite of phenylpropionic acid, in a patient with medium chain acyl-coa dehydrogenase deficiency

1990 ◽  
Vol 13 (3) ◽  
pp. 325-329 ◽  
Author(s):  
R. Moore ◽  
D. S. Millington ◽  
D. Norwood ◽  
N. Kodo ◽  
P. Robinson ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Phenylpropionic Acid ◽  
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

Acylcarnitines in urine in medium-chain acyl-CoA dehydrogenase deficiency measured by quantitative high-pressure liquid chromatography

1986 ◽  
Vol 14 (4) ◽  
pp. 700-701 ◽  
Author(s):  
B. M. TRACEY ◽  
R. A. CHALMERS ◽  
J. R. ROSANKIEWICZ ◽  
C. DE SOUSA ◽  
T. E. STACEY
Keyword(s):  
High Pressure ◽  
Liquid Chromatography ◽  
High Pressure Liquid Chromatography ◽  
Dehydrogenase Deficiency ◽  
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

Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency

The Lancet ◽  
1990 ◽  
Vol 335 (8705) ◽  
pp. 1589 ◽  
Author(s):  
Yoichi Matsubara ◽  
Kuniaki Narisawa ◽  
Shigeaki Miyabayashi ◽  
Keiya Tada ◽  
PaulM. Coates
Keyword(s):  
Dehydrogenase Deficiency ◽  
Medium Chain ◽  
Chain Acyl
Sign in / Sign up

Export Citation Format

Share Document