Chulaluck Kuptanon
Bangkok, Thailand
Last Updated: 09/26/2026
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Found 22 publications
Genomic sequencing enhances metabolic newborn screening in Thailand.
Journal: Clinical biochemistry
Published: November 02, 2025
Impacts and Economic Burden of Pompe Disease on Patients and Families in Thailand: A Mixed Method Study.
Journal: ClinicoEconomics and outcomes research : CEOR
Published: May 22, 2025
Assessing the Value for Money of Enzyme Replacement Therapy in Gaucher Disease Types 1 and 3b: Can Expanded Coverage Be Justified?
Journal: PharmacoEconomics - open
Published: April 08, 2025
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.
Journal: Orphanet journal of rare diseases
Published: December 30, 2023
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder.
Journal: Scientific reports
Published: July 25, 2023
Pharmacogenomic landscape of the Thai population from genome sequencing of 949 individuals.
Journal: Scientific reports
Published: May 30, 2023
Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.
Journal: Clinical genetics
Published: March 13, 2022
Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.
Journal: Orphanet journal of rare diseases
Published: August 09, 2021
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
A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2.
Journal: European journal of medical genetics
Published: November 03, 2019
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
Journal: BMC medical genetics
Published: November 30, 2018
Last Updated: 09/26/2026