Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria

Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria

ABSTRACT Homocystinuria due to cystathionine beta‐synthase (CBS) deficiency is a rare metabolic disorder inherited as an autosomal recessive trait. Spectrum of genetic variants in CBS gene and their correlation with the phenotypes of homocystinuria in Sri Lankan patients have not been reported to da...

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Main Authors: Hewa Warawitage Dilanthi, Kandana Liyanage Subhashinie Jayasena, Nambage Dona Priyani Dhammika, Neluwa Liyanage Ruwan Indika, Matara Mahavidanage Nishani De Silva, Imalke Kankananarachchi, Pushpa Malkanthi Gardiye Punchihewa, Dharma Irugalbandara, Sabine Schroeder, Kosala Karunaratne, Eresha Jasinge
Format: Article
Language:English
Published: Wiley 2025-01-01
Series:JIMD Reports
Subjects:
betaine
cystathionine beta‐synthase
cystathionine beta‐synthase deficiency
homocystinuria
pyridoxine
Online Access:https://doi.org/10.1002/jmd2.12470
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https://doi.org/10.1002/jmd2.12470

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