An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis).

Mao, Shao-Jia; Zhao, Jia; Shen, Zheng; Zou, Chao-Chun

Mao, Shao-Jia; Zhao, Jia; Shen, Zheng; Zou, Chao-Chun.

Afiliación

Mao SJ; Department of Endocrinology, the Children's Hospital of Zhejiang University School of Medicine, No 3333 Binsheng Road, Hangzhou, 310051, Zhejiang Province, China.
Zhao J; Department of Endocrinology, the Children's Hospital of Zhejiang University School of Medicine, No 3333 Binsheng Road, Hangzhou, 310051, Zhejiang Province, China.
Shen Z; Department of Pediatrics, the People's Hospital of Zhuji, Shaoxing, Zhejiang Province, China.
Zou CC; Department of Endocrinology, the Children's Hospital of Zhejiang University School of Medicine, No 3333 Binsheng Road, Hangzhou, 310051, Zhejiang Province, China.

BMC Pediatr ; 22(1): 403, 2022 07 11.

Article en En | MEDLINE | ID: mdl-35820891

Asunto(s)

Fucosidosis; Pueblo Asiatico; Niño; Fucosidosis/diagnóstico; Fucosidosis/genética; Homocigoto; Humanos; Masculino; Mutación; alfa-L-Fucosidasa/genética

Palabras clave

All tissue systems; FUCA1; Fucosidosis; Lysosomal storage disease; α-L-fucosidase

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fucosidosis Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Child / Humans / Male Idioma: En Revista: BMC Pediatr Asunto de la revista: PEDIATRIA Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido

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