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Molecular Genetics and Metabolism Reports|July 5, 2022
The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiencyYue Huang, Richard Chang, Jose E Abdenur
Molecular Genetics and Metabolism|September 5, 2025
Maternal metabolic conditions identified by newborn screeningRebecca Sponberg, Rebekah Barrick, Kathryn Gasperian, et al.
AJP Reports|March 16, 2023
Misdiagnosis of Total Parental Nutrition-Related Riboflavin Deficiency: Three Case Reports of Diagnostic ErrorGrant J Shafer, Jose E Abdenur, Vijay Dhar, et al.
Obstetrics and Gynecology|August 2, 2007
Carnitine deficiency in pregnancyChristopher T Donnelly, Afshan B Hameed, Jose E Abdenur, et al.
Molecular Genetics and Metabolism Reports|October 27, 2025
Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defectMarina Bottino, Monica Boyer, Maija R Steenari, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2013
Reduction in newborn screening metabolic false-positive results following a new collection protocolMindy Morris, Kristin Fischer, Karen Leydiker, et al.
World Journal of Pediatrics : WJP|January 28, 2014
Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypassRaymond Y Wang, Richard C Chang, Mary E Sowa, et al.
JIMD Reports|July 5, 2015
New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic AciduriaAshlee R Stiles, Leah Venturoni, Grace Mucci, et al.
JIMD Reports|November 26, 2013
Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemiaMariella Simon, Richard C Chang, Deeksha S Bali, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|April 4, 2025
Aminolevulinate/iron exposure elicited Nrf-2-mediated cytoprotection in DARS2 deficient fibroblasts with impaired energy and antioxidant metabolismsWei-Lin Huang, Tuany Eichwald, Alexander Stover, et al.
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