Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Chulaluck Kuptanon

2PUBLICATIONS

25CO-AUTHORS

Major global burdens of diseaseGenetic immunology

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (2)

Sort by Publication Date:

|Mar 16, 2026

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

Sitaporn Youngkong, Montarat Thavorncharoensap, Usa Chaikledkaew

|Oct 03, 2023

Spectrum of <i>LYST</i> mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.

Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon

Pageof 1

Frequent Collaborators

1 joint publications

Marie Morimoto

1 joint publications

Elena-Raluca Nicoli

1 joint publications

Joseph C Roney

1 joint publications

Jenny Serra-Vinardell

1 joint publications

Prashant Sharma

1 joint publications

David R Adams

1 joint publications

John I Gallin

1 joint publications

Steven M Holland

1 joint publications

Sergio D Rosenzweig

1 joint publications

Marjan Huizing

Frequent Collaborators

1 joint publications

Marie Morimoto

1 joint publications

Elena-Raluca Nicoli

1 joint publications

Joseph C Roney

1 joint publications

Jenny Serra-Vinardell

Top Related Videos

<em>In Vitro</em> Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

<em>In Vitro</em> Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on : Dec 20, 2017

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on : Jun 15, 2011

See more related videos

Top Related Videos

<em>In Vitro</em> Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

<em>In Vitro</em> Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on : Dec 20, 2017

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on : Jun 15, 2011

See more related videos