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European Journal of Pediatrics|January 1, 1995
Zinc deficiency in an exclusively breast-fed preterm infantF Heinen, D Matern, W Pringsheim, et al.
Molecular Genetics and Metabolism|September 26, 2000
Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathwaysJ Vockley, P Rinaldo, M J Bennett, et al.
Journal of Population Therapeutics and Clinical Pharmacology = Journal De La Therapeutique Des Populations Et De La Pharmacologie Clinique|February 9, 2013
Thiopurine methyltransferase screening before azathioprine prescription: a physician surveyR M Taylor-Gjevre, J A Gjevre, B V Nair, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|April 3, 2001
Determination of homovanillic acid in urine by stable isotope dilution and electrospray tandem mass spectrometryM J Magera, A L Stoor, J K Helgeson, et al.
The Journal of Pediatrics|November 1, 1996
Primary treatment of propionic acidemia complicated by acute thiamine deficiencyD Matern, H H Seydewitz, W Lehnert, et al.
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.
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