Kanya Suphapeetiporn

254 Phayathai Road
Bangkok, 10330, Thailand

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 129 publications

Blau syndrome initially manifested with hypercalcemia: a case report and literature review.

Blau syndrome initially manifested with hypercalcemia: a case report and literature review.

Journal: Annals of pediatric endocrinology & metabolism

Published: September 25, 2025

Blau syndrome initially presenting with hypercalcemia: a case report and literature review.

Blau syndrome initially presenting with hypercalcemia: a case report and literature review.

Journal: Annals of pediatric endocrinology & metabolism

Published: September 25, 2025

Impacts and Economic Burden of Pompe Disease on Patients and Families in Thailand: A Mixed Method Study.

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

Risk factors for corneal transplantation in Fuchs endothelial corneal dystrophy from a large Thai cohort.

Risk factors for corneal transplantation in Fuchs endothelial corneal dystrophy from a large Thai cohort.

Journal: Scientific reports

Published: May 01, 2025

Assessing the Value for Money of Enzyme Replacement Therapy in Gaucher Disease Types 1 and 3b: Can Expanded Coverage Be Justified?

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

Gene Correction of Wiskott-Aldrich syndrome iPS Cells Rescues Proplatelet Defects and Improves Platelet Size.

Gene Correction of Wiskott-Aldrich syndrome iPS Cells Rescues Proplatelet Defects and Improves Platelet Size.

Journal: Thrombosis and haemostasis

Published: December 24, 2024

Two distinct phenotypes and a novel mutation in limb-girdle muscular dystrophy R7 telethonin-related patients from Thai neuromuscular center.

Two distinct phenotypes and a novel mutation in limb-girdle muscular dystrophy R7 telethonin-related patients from Thai neuromuscular center.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: November 22, 2024

Singleton rapid long-read genome sequencing as first tier genetic test for critically Ill children with suspected genetic diseases.

Singleton rapid long-read genome sequencing as first tier genetic test for critically Ill children with suspected genetic diseases.

Journal: European journal of human genetics : EJHG

Published: October 07, 2024

Demographic Profile and Clinical Characteristics of Fuchs Endothelial Corneal Dystrophy in Thai Patients: A Retrospective Cohort in a Tertiary Referral Center.

Demographic Profile and Clinical Characteristics of Fuchs Endothelial Corneal Dystrophy in Thai Patients: A Retrospective Cohort in a Tertiary Referral Center.

Journal: Clinical ophthalmology (Auckland, N.Z.)

Published: September 30, 2024

Whole exome sequencing in relapsed or refractory childhood cancer: case series.

Whole exome sequencing in relapsed or refractory childhood cancer: case series.

Journal: Asian biomedicine : research, reviews and news

Published: September 23, 2024

Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand.

Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand.

Journal: World journal of clinical pediatrics

Published: August 18, 2024

Novel PLEC variants associated with infantile cholestasis.

Novel PLEC variants associated with infantile cholestasis.

Journal: Clinical genetics

Published: May 06, 2024

Showing 1-12 of 129

Last Updated: 09/26/2026