Genomic sequencing: ending the diagnostic odyssey for a child with microcephaly and dystonia with a perioperative challenge-Reference-Cited by-同舟云学术

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Genomic sequencing: ending the diagnostic odyssey for a child with microcephaly and dystonia with a perioperative challenge

Published:2024-06-28 Issue: Volume: Page:
ISSN:0037-5675
Container-title:Singapore Medical Journal
language:en
Short-container-title:

Author:

Cheng Duo-Tong¹²,Yeo Tong Hong²³,Seng Michaela Su-Fern²⁴,Teoh Oon Hoe¹²,Lee Sumin⁵,Koh Ai Ling²⁶

Affiliation:

1. Respiratory Medicine Service, Department of Paediatrics, KK Women’s and Children’s Hospital, Singapore

2. Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore

3. Neurology Service, Department of Paediatrics, KK Women’s and Children’s Hospital, Singapore

4. Haematology/Oncology Service, Department of Paediatrics, KK Women’s and Children’s Hospital, Singapore

5. Paediatric Anaesthesia Service, KK Women’s and Children’s Hospital, Singapore

6. Genetics Service, Department of Paediatrics, KK Women’s and Children’s Hospital, Singapore

Publisher

Medknow

Reference5 articles.

1. Recommendations for diagnosis and treatment of methemoglobinemia;Iolascon;Am J Hematol,2021

2. Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia;Gupta;Human Mutation,2020

3. Neurological and neuroimaging features of CYB5R3-related recessive hereditary methemoglobinemia type II;Nicita;Brain Sci,2022

4. Treatment of high-risk, refractory acquired methemoglobinemia with automated red blood cell exchange;Golden;J Clin Apher,1998

5. Anesthetic experience: Congenital methemoglobinemia due to hemoglobin M;Ri;J Dent Anesth Pain Med,2021

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