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المؤلفون: Kenneth L. Cox, Deborah Alcorn, William E. Benitz, Deirdre J. Lyell, Ricardo O. Castillo, Melissa Hurwitz, Margaret Homeyer, Yael Wilnai, Susan R. Hintz, Jonathan A. Bernstein, Gregory M. Enns, Tina M. Cowan, Jonathan P. Palma, Kristina Cusmano, Susan Schelley, Marshall L. Summar, William E. Berquist, Yair J. Blumenfeld, Waldo Concepcion, Louanne Hudgins, Vishnu Priya Akula, Carlos O. Esquivel
المصدر: Molecular genetics and metabolism. 123(3)
مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, Glutamine, Ornithine Carbamoyltransferase Deficiency Disease, Physiology, Prenatal care, 030204 cardiovascular system & hematology, Biochemistry, Umbilical cord, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Ammonia, Pregnancy, Prenatal Diagnosis, Sodium Benzoate, Genetics, medicine, Humans, Hyperammonemia, Urea, Molecular Biology, Ornithine transcarbamylase deficiency, Ornithine Carbamoyltransferase, Phenylacetates, Fetus, business.industry, Infant, Newborn, Prenatal Care, medicine.disease, Drug Combinations, medicine.anatomical_structure, Acute hyperammonemia, Treatment Outcome, Urea cycle, Mutation, Female, business, 030217 neurology & neurosurgery
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المؤلفون: Susan Schelley, Dietrich Matern, Joyce A. Kobori, Norman L. Lehman, Susan R. Hintz, Christopher E. Colby, Arnold W. Strauss, H. Eugene Hoyme, Gregory M. Enns, Michael J. Bennett
المصدر: Molecular Genetics and Metabolism. 75:120-127
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Time Factors, Endocrinology, Diabetes and Metabolism, Muscle Fibers, Skeletal, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein, Biology, Hypoglycemia, Biochemistry, Endocrinology, Multienzyme Complexes, Pregnancy, Internal medicine, Genetics, medicine, Humans, Molecular Biology, Beta oxidation, Newborn screening, Mitochondrial Trifunctional Protein, Fatty Acids, Infant, Newborn, 3-Hydroxyacyl CoA Dehydrogenases, Infant, medicine.disease, 3-Hydroxyacyl-CoA Dehydrogenase, biology.protein, Female, Long chain, Metabolism, Inborn Errors