Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.

Tavasoli, Ali Reza; Parvaneh, Nima; Ashrafi, Mahmoud Reza; Rezaei, Zahra; Zschocke, Johannes; Rostami, Parastoo

Tavasoli, Ali Reza; Parvaneh, Nima; Ashrafi, Mahmoud Reza; Rezaei, Zahra; Zschocke, Johannes; Rostami, Parastoo.

Afiliação

Tavasoli AR; Myelin Disorder Clinic (Iranian Neurometabolic Registery), Pediatric Neurology Division, Neurometabolic Registry Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Parvaneh N; Division of Allergy and Clinical Immunology, Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Ashrafi MR; Myelin Disorder Clinic (Iranian Neurometabolic Registery), Pediatric Neurology Division, Neurometabolic Registry Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Rezaei Z; Myelin Disorder Clinic (Iranian Neurometabolic Registery), Pediatric Neurology Division, Neurometabolic Registry Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Zschocke J; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Rostami P; Growth and Development Research Center, Division of Endocrinology and metabolism, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Drp_rostami@yahoo.com.

Orphanet J Rare Dis ; 13(1): 130, 2018 08 03.

Article em En | MEDLINE | ID: mdl-30075786

Assuntos

Mutação/genética; Doença de Sandhoff/genética; Doença de Sandhoff/patologia; Pré-Escolar; Feminino; Hexosaminidase A/genética; Humanos; Lactente; Irã (Geográfico); Masculino; Cadeia beta da beta-Hexosaminidase/genética

Palavras-chave

Cherry red spot; HEXB gene; Infantile Sandhoff disease; Organomegaly

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Sandhoff / Mutação Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Irã País de publicação: Reino Unido

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