Stanley H. Korman
Jerusalem, JM, Israel
Last Updated: 09/26/2026
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Found 17 publications
Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 08, 2024
Cytosolic PEPCK deficiency caused by a novel homozygous frame-shift variant presenting as resolved hypoglycemia and acute liver failure at birth.
Journal: Molecular genetics and metabolism reports
Published: October 02, 2024
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.
Journal: Journal of inherited metabolic disease
Published: April 12, 2024
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Journal: Molecular genetics and metabolism
Published: February 13, 2024
Hereditary orotic aciduria identified by newborn screening.
Journal: Frontiers in genetics
Published: December 31, 2022
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Journal: Journal of inherited metabolic disease
Published: October 01, 2022
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.
Journal: Human molecular genetics
Published: April 11, 2022
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Journal: Journal of inherited metabolic disease
Published: August 22, 2020
Case 2: A 2-month-old Girl with Liver Failure and a Brother with Tyrosinemia Type I.
Journal: Pediatrics in review
Published: December 04, 2019
Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
Journal: European journal of medical genetics
Published: July 09, 2019
Argininemia, Hyperornithinemia, and 3-Hydroxyisovaleric Aciduria.
Journal: Clinical chemistry
Published: January 14, 2018
Last Updated: 09/26/2026