Mongkol Chanvanichtrakool

Bangkok, 10700, Thailand

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 8 publications

Novel TMEM63A mutation associated with transient hypomyelination of infancy - lessons from a previously negative whole-exome sequencing case: Three case reports.

Novel TMEM63A mutation associated with transient hypomyelination of infancy - lessons from a previously negative whole-exome sequencing case: Three case reports.

Journal: World journal of clinical pediatrics

Published: December 12, 2025

Duchenne muscular dystrophy coexisting with Down syndrome or Turner syndrome: Two case reports.

Duchenne muscular dystrophy coexisting with Down syndrome or Turner syndrome: Two case reports.

Journal: World journal of clinical pediatrics

Published: November 20, 2025

Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.

Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.

Journal: Pediatric research

Published: February 14, 2025

Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises.

Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises.

Journal: Pediatric neurology

Published: March 30, 2024

Applications of near-infrared spectroscopy in epilepsy, with a focus on mitochondrial disorders.

Applications of near-infrared spectroscopy in epilepsy, with a focus on mitochondrial disorders.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Published: January 05, 2024

Neuronal Ceroid Lipofuscinoses Presenting as Rett-like Phenotype: A Two-Case Report From Thailand.

Neuronal Ceroid Lipofuscinoses Presenting as Rett-like Phenotype: A Two-Case Report From Thailand.

Journal: Pediatric neurology

Published: January 25, 2022

Rare cause of neonatal apnea from congenital central hypoventilation syndrome.

Rare cause of neonatal apnea from congenital central hypoventilation syndrome.

Journal: BMC pediatrics

Published: June 30, 2021

Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.

Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.

Journal: Clinical genetics

Published: March 28, 2021

Showing 1-8 of 8

Last Updated: 09/26/2026