Pornswan Wasant

Bangkok, 73170, Thailand

Last Updated: 09/26/2026

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Found 12 publications

Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain.

Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain.

Journal: International journal of molecular sciences

Published: April 30, 2024

Phenotypic and molecular features of Thai patients with primary carnitine deficiency.

Phenotypic and molecular features of Thai patients with primary carnitine deficiency.

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

Published: May 08, 2022

Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants.

Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants.

Journal: Molecular biology reports

Published: September 25, 2020

Asia Pacific Society of Human Genetics (APSHG) from conception to 2019: 13 years of collaboration to tackle congenital malformation and genetic disorders in Asia.

Asia Pacific Society of Human Genetics (APSHG) from conception to 2019: 13 years of collaboration to tackle congenital malformation and genetic disorders in Asia.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: March 31, 2019

Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.

Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.

Journal: Biochemical genetics

Published: July 14, 2015

Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.

Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.

Journal: Brain & development

Published: July 28, 2014

An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.

An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.

Journal: PloS one

Published: April 03, 2014

Clinical characteristics and mutation analysis of propionic acidemia in Thailand.

Clinical characteristics and mutation analysis of propionic acidemia in Thailand.

Journal: World journal of pediatrics : WJP

Published: March 28, 2013

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.

Journal: Molecular genetics and metabolism

Published: May 04, 2012

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.

Journal: Molecular genetics and metabolism

Published: March 28, 2012

Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia.

Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia.

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

Published: October 19, 2011

Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: an eight-year experience.

Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: an eight-year experience.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: October 13, 2011

Showing 1-12 of 12

Last Updated: 09/26/2026