Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria.

Abdelkhalek, Zeinab S; Mahmoud, Iman G; Omair, Heba; Abdulhay, Mohamed; Elmonem, Mohamed A

Abdelkhalek, Zeinab S; Mahmoud, Iman G; Omair, Heba; Abdulhay, Mohamed; Elmonem, Mohamed A.

Afiliação

Abdelkhalek ZS; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Center of Social and Preventive Medicine, Room 409, Monira, Cairo, 11628, Egypt. zeinab.abdelkhalek@kasralainy.edu.eg.
Mahmoud IG; Metabolic Division, Pediatrics Neurology Department, Faculty of Medicine, Cairo University Children's Hospital, Cairo, Egypt.
Omair H; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Center of Social and Preventive Medicine, Room 409, Monira, Cairo, 11628, Egypt.
Abdulhay M; Pediatrics Department, Faculty of Medicine, Helwan University, Cairo, Egypt.
Elmonem MA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Center of Social and Preventive Medicine, Room 409, Monira, Cairo, 11628, Egypt.

Sci Rep ; 13(1): 14374, 2023 09 01.

Article em En | MEDLINE | ID: mdl-37658095

Assuntos

Alcaptonúria; Dioxigenases; Adolescente; Feminino; Masculino; Humanos; Criança; Alcaptonúria/genética; Egito; Homogentisato 1,2-Dioxigenase/genética; Fenilacetatos; Ácido Homogentísico

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Dioxigenases / Alcaptonúria Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Dioxigenases / Alcaptonúria Idioma: En Ano de publicação: 2023 Tipo de documento: Article