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Molecular Genetics and Metabolism|March 13, 2001
Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencyD Matern, B M Schehata, P Shekhawa, et al.
Molecular Genetics and Metabolism|January 27, 2005
The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type IS Tortorelli, S H Hahn, T M Cowan, et al.
Pediatric Research|July 10, 1999
Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysisD Matern, A W Strauss, S L Hillman, et al.
Molecular Genetics and Metabolism|August 5, 2008
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptomsS E Waisbren, H L Levy, M Noble, et al.
The Journal of Pediatrics|April 11, 2001
Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiencyD Matern, P Hart, A P Murtha, et al.
Molecular Genetics and Metabolism|June 3, 2004
Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase geneJ T McKinney, N Longo, S H Hahn, et al.
Atherosclerosis|August 5, 2000
FH-Freiburg: a novel missense mutation (C317Y) in growth factor repeat A of the low density lipoprotein receptor gene in a German patient with homozygous familial hypercholesterolemiaM S Nauck, H Scharnagl, H Nissen, et al.
Molecular Genetics and Metabolism|June 6, 2017
Psychosine, a marker of Krabbe phenotype and treatment effectM L Escolar, B T Kiely, E Shawgo, et al.
The Journal of Clinical Investigation|June 8, 2001
Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden deathJ A Ibdah, H Paul, Y Zhao, et al.
Molecular Genetics and Metabolism|March 24, 2010
Maple syrup urine disease: further evidence that newborn screening may fail to identify variant formsR L Puckett, F Lorey, P Rinaldo, et al.
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