Osamu Sakamoto
Sendai, Japan
Last Updated: 09/26/2026
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Found 31 publications
Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age.
Journal: Journal of inherited metabolic disease
Published: December 19, 2020
Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 06, 2020
Hypoketotic hypoglycemia in citrin deficiency: a case report.
Journal: BMC pediatrics
Published: April 21, 2020
Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2.
Journal: Molecular genetics and metabolism
Published: May 02, 2019
The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants.
Journal: Molecular genetics and metabolism
Published: December 11, 2018
Biallelic GALM pathogenic variants cause a novel type of galactosemia.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 05, 2018
Successful control of maternal phenylketonuria by tetrahydrobiopterin.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: April 23, 2018
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.
Journal: European journal of medical genetics
Published: December 04, 2017
Reappraising newborn screening for cobalamin C disorder.
Journal: Pediatrics and neonatology
Published: March 16, 2017
Reversible brain atrophy in glutaric aciduria type 1.
Journal: Brain & development
Published: November 06, 2016
Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study.
Journal: Molecular genetics and metabolism reports
Published: September 06, 2016
Central Venous Catheter-Related Bloodstream Infection with Kocuria kristinae in a Patient with Propionic Acidemia.
Journal: Case reports in infectious diseases
Published: July 12, 2016
Last Updated: 09/26/2026