Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series.

Yassaee, Vahid Reza; Hashemi-Gorji, Feyzollah; Miryounesi, Mohammad; Rezayi, Alireza; Ravesh, Zeinab; Yassaee, Fakhrolmolouk; Salehpour, Shadab

Yassaee, Vahid Reza; Hashemi-Gorji, Feyzollah; Miryounesi, Mohammad; Rezayi, Alireza; Ravesh, Zeinab; Yassaee, Fakhrolmolouk; Salehpour, Shadab.

Afiliación

Yassaee VR; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Miryounesi M; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Rezayi A; Department of Pediatrics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Ravesh Z; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Yassaee F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Department of Obstetrics and Gynecology, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Salehpour S; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Department of Pediatrics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address: shadab.salehpour@sbmu.ac.ir.

Clin Chim Acta ; 474: 88-95, 2017 Nov.

Article en En | MEDLINE | ID: mdl-28844463

Asunto(s)

Mucopolisacaridosis/genética; Linaje; Niño; Preescolar; Femenino; Humanos; Lactante; Irán; Masculino; Análisis de Secuencia

Palabras clave

GALNS; IDS; IDUA; Lysosomal storage disease (LSD); Mucopolysaccharidosis (MPS); Mutation; NAGLU; SGSH; Whole Exome Sequencing (WES)

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Linaje / Mucopolisacaridosis Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: Clin Chim Acta Año: 2017 Tipo del documento: Article País de afiliación: Irán

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