You are here

  • Home
  • Archive
  • Volume 15, Issue 4
  • Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review

Article info

Article menu
Download PDFPDF
Case Reports: Rare disease
Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review

Authors

  • Ekkarit Panichsillaphakit Division of Nutrition, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand PubMed articlesGoogle scholar articles
  • Tanisa Kwanbunbumpen Division of Nutrition, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand PubMed articlesGoogle scholar articles
  • Sirinuch Chomtho Pediatric Nutrition Research Unit, Division of Nutrition, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, The Thai Red Cross Society, Bangkok, Thailand PubMed articlesGoogle scholar articles
  • Chonnikant Visuthranukul Pediatric Nutrition Research Unit, Division of Nutrition, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, The Thai Red Cross Society, Bangkok, Thailand PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Chonnikant Visuthranukul; chonnikant.v{at}chula.ac.th
View Full Text

Citation

Panichsillaphakit E, Kwanbunbumpen T, Chomtho S, et al
Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review
BMJ Case Reports CP 2022;15:e247937.

Publication history

  • Accepted March 24, 2022
  • First published April 7, 2022.
Online issue publication 
January 24, 2024

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Copyright information

© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.