Pao-chin W. Chiu

Kaohsiung, KHQ, Taiwan

Last Updated: 09/26/2026

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Found 26 publications

Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan.

Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan.

Journal: Molecular genetics & genomic medicine

Published: May 02, 2025

Rapid Improvement of Hyperpigmentation, Growth, and Developmental Milestones With High-Dose Hydroxocobalamin, Betaine, and Folinic Acid Treatment: The First Patient With Cobalamin G Deficiency in Taiwan.

Rapid Improvement of Hyperpigmentation, Growth, and Developmental Milestones With High-Dose Hydroxocobalamin, Betaine, and Folinic Acid Treatment: The First Patient With Cobalamin G Deficiency in Taiwan.

Journal: JIMD reports

Published: July 25, 2024

Navigating the Diagnostic Journey in Pediatric Gastroenterology: Decoding Recurrent Vomiting and Epigastric Pain in a Child with Glutaric Aciduria Type II.

Navigating the Diagnostic Journey in Pediatric Gastroenterology: Decoding Recurrent Vomiting and Epigastric Pain in a Child with Glutaric Aciduria Type II.

Journal: Children (Basel, Switzerland)

Published: January 24, 2024

Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights.

Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights.

Journal: Molecular genetics and metabolism reports

Published: November 11, 2023

Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients.

Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients.

Journal: In vivo (Athens, Greece)

Published: September 21, 2023

Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism.

Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism.

Journal: Frontiers in endocrinology

Published: August 27, 2023

High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan.

High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan.

Journal: Molecular genetics and metabolism reports

Published: June 25, 2022

Asymptomatic ASS1 carriers with high blood citrulline levels.

Asymptomatic ASS1 carriers with high blood citrulline levels.

Journal: Molecular genetics & genomic medicine

Published: March 17, 2022

Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test.

Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test.

Journal: Molecular genetics and metabolism

Published: January 11, 2022

Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome.

Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome.

Journal: Journal of personalized medicine

Published: September 25, 2021

A novel deep intronic variant strongly associates with Alkaptonuria.

A novel deep intronic variant strongly associates with Alkaptonuria.

Journal: NPJ genomic medicine

Published: February 07, 2021

Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences.

Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences.

Journal: Molecular genetics and metabolism reports

Published: April 20, 2020

Showing 1-12 of 26

Last Updated: 09/26/2026