Hideo Sugie

Hamamatsu, Japan

Last Updated: 09/26/2026

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Found 36 publications

Biopsy-Proven Reversal of F4 Cirrhosis in Classic Hepatic Glycogen Storage Disease Type IV: A 42-Year Follow-Up Without Transplantation.

Biopsy-Proven Reversal of F4 Cirrhosis in Classic Hepatic Glycogen Storage Disease Type IV: A 42-Year Follow-Up Without Transplantation.

Journal: Hepatology research : the official journal of the Japan Society of Hepatology

Published: August 04, 2025

A novel 2.4-kb PHKA2 deletion in a boy with glycogen storage disease type IXa.

A novel 2.4-kb PHKA2 deletion in a boy with glycogen storage disease type IXa.

Journal: Congenital anomalies

Published: November 20, 2023

A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review.

A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review.

Journal: Internal medicine (Tokyo, Japan)

Published: May 08, 2022

Muscle biochemical and pathological diagnosis in Pompe disease.

Muscle biochemical and pathological diagnosis in Pompe disease.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: February 15, 2022

A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review.

A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review.

Journal: Neuromuscular disorders : NMD

Published: October 20, 2021

Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency.

Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency.

Journal: Internal medicine (Tokyo, Japan)

Published: October 07, 2021

A novel PHKA2 variant in a Japanese boy with glycogen storage diseases type IXa.

A novel PHKA2 variant in a Japanese boy with glycogen storage diseases type IXa.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: February 02, 2021

Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.

Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.

Journal: Internal medicine (Tokyo, Japan)

Published: July 17, 2020

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.

Journal: Molecular genetics and metabolism reports

Published: March 21, 2020

Electrophysiological evidence of impaired neuromuscular junction in a case of phosphoglucomutase 1 deficiency manifesting fluctuating muscle weakness

Electrophysiological evidence of impaired neuromuscular junction in a case of phosphoglucomutase 1 deficiency manifesting fluctuating muscle weakness

Journal: Rinsho shinkeigaku = Clinical neurology

Published: January 21, 2020

The effect of the guidelines for management of febrile seizures 2015 on clinical practices: Nationwide survey in Japan.

The effect of the guidelines for management of febrile seizures 2015 on clinical practices: Nationwide survey in Japan.

Journal: Brain & development

Published: June 13, 2019

A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia.

A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia.

Journal: JIMD reports

Published: January 18, 2019

Showing 1-12 of 36

Last Updated: 09/26/2026