Unveiling clinical and genetic landscapes of MMA and CBS: insights from whole exome sequencing in a tertiary care setting

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Authors: Muhammad Wasim, Iram Javed, Afia Iqbal, Nadia Mustafa, Haq Nawaz Khan, Tipu Sultan, Y. Y. Wang, Guoda Ma
Cited by: 1
References: 29

Fields of Study & Subjects

Folate and B Vitamins Research Metabolism and Genetic Disorders Porphyrin Metabolism and Disorders

Publication details

Journal / source
Pediatric Research
Publisher
Springer Science and Business Media LLC
Volume
100
Issue
1
Pages
222–229
Publication date
3 March 2026
Language
EN