Hidehito Kondo

Kyoto, Japan

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 20 publications

Facial bromoderma in an infant with refractory epilepsy.

Facial bromoderma in an infant with refractory epilepsy.

Journal: Archives of disease in childhood

Published: June 08, 2026

Successful Treatment of Epileptic Spasms with Perampanel in a Patient with Menkes Disease Caused by a Novel Splice Variant in Intron of ATP7A.

Successful Treatment of Epileptic Spasms with Perampanel in a Patient with Menkes Disease Caused by a Novel Splice Variant in Intron of ATP7A.

Journal: Neuropediatrics

Published: May 28, 2026

Long-term survival in MIRAGE syndrome: Insights into systemic manifestations and management with review of literature.

Long-term survival in MIRAGE syndrome: Insights into systemic manifestations and management with review of literature.

Journal: Endocrine journal

Published: April 23, 2026

A phase III double-blind, placebo-controlled, randomized withdrawal trial of 5‑aminolevulinic acid hydrochloride with sodium ferrous citrate for efficacy and safety in patients diagnosed as Leigh syndrome.

A phase III double-blind, placebo-controlled, randomized withdrawal trial of 5‑aminolevulinic acid hydrochloride with sodium ferrous citrate for efficacy and safety in patients diagnosed as Leigh syndrome.

Journal: PloS one

Published: August 28, 2025

Fatal cardiac dysfunction in a child with Williams syndrome.

Fatal cardiac dysfunction in a child with Williams syndrome.

Journal: Legal medicine (Tokyo, Japan)

Published: June 21, 2023

Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up.

Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up.

Journal: The American journal of case reports

Published: April 13, 2023

Dravet syndrome and hemorrhagic shock and encephalopathy syndrome associated with an intronic deletion of SCN1A.

Dravet syndrome and hemorrhagic shock and encephalopathy syndrome associated with an intronic deletion of SCN1A.

Journal: Brain & development

Published: November 16, 2022

Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2.

Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2.

Journal: Frontiers in neuroscience

Published: October 31, 2022

Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant.

Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant.

Journal: Neuropediatrics

Published: June 01, 2022

Sudden death of a 2-year-old child due to alpha-ketoadipic aciduria.

Sudden death of a 2-year-old child due to alpha-ketoadipic aciduria.

Journal: Forensic science, medicine, and pathology

Published: May 14, 2022

Severe congenital myasthenic syndrome with novel variants in the CHRND gene.

Severe congenital myasthenic syndrome with novel variants in the CHRND gene.

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

Published: March 19, 2022

Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series.

Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series.

Journal: Journal of medical case reports

Published: September 14, 2021

Showing 1-12 of 20

Last Updated: 09/26/2026