Código QR (código de barras bidimensional)

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...

ver descrição completa

Na minha lista:
Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley 2025-01-01
coleção:JIMD Reports
Assuntos:
betaine
cystathionine beta‐synthase
cystathionine beta‐synthase deficiency
homocystinuria
pyridoxine
Acesso em linha:https://doi.org/10.1002/jmd2.12470
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registros relacionados