Pranoot X. Tanpaiboon

Medical Genetics | Pediatrics

Maharaj Nakorn Chiang Mai Hospital
110 Intavarorod Road
Muang, 50200, Thailand

Last Updated: 09/26/2026

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Found 47 publications

Development of an automated quality control and assay performance management system for biochemical genetics laboratory.

Development of an automated quality control and assay performance management system for biochemical genetics laboratory.

Journal: Molecular genetics and metabolism reports

Published: June 04, 2025

Editorial: New insights: developments in laboratory testing for the diagnosis and monitoring of endocrine related disorders and metabolic disease.

Editorial: New insights: developments in laboratory testing for the diagnosis and monitoring of endocrine related disorders and metabolic disease.

Journal: Frontiers in endocrinology

Published: November 08, 2024

Plasma arginine levels in arginase deficiency in the "real world".

Plasma arginine levels in arginase deficiency in the "real world".

Journal: Molecular genetics and metabolism reports

Published: November 01, 2023

Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.

Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.

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

Published: June 23, 2023

Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study.

Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study.

Journal: Journal of inherited metabolic disease

Published: January 13, 2023

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.

Journal: Journal of neuromuscular diseases

Published: October 10, 2022

Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.

Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.

Journal: Molecular genetics and metabolism

Published: November 05, 2021

Development and validation of a high throughput SARS-CoV-2 whole genome sequencing workflow in a clinical laboratory.

Development and validation of a high throughput SARS-CoV-2 whole genome sequencing workflow in a clinical laboratory.

Journal: Scientific reports

Published: October 20, 2021

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.

Journal: Cardiology in the young

Published: August 23, 2021

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.

Journal: Molecular genetics and metabolism reports

Published: February 17, 2021

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.

Journal: JAMA pediatrics

Published: February 15, 2021

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 23, 2020

Showing 1-12 of 47

Last Updated: 09/26/2026