Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.

Liang, Yingjun; Gao, Xiaolan; Lu, Deyun; Zhang, Huiwen

Liang, Yingjun; Gao, Xiaolan; Lu, Deyun; Zhang, Huiwen.

Afiliación

Liang Y; Pediatric Endocrinology and Genetic, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Kongjiang Road 1665 #, Shanghai, 200092, China.
Gao X; Pediatric Endocrinology and Genetic, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Kongjiang Road 1665 #, Shanghai, 200092, China.
Lu D; Pediatric Endocrinology and Genetic, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Kongjiang Road 1665 #, Shanghai, 200092, China.
Zhang H; Pediatric Endocrinology and Genetic, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Kongjiang Road 1665 #, Shanghai, 200092, China. zhanghuiwen@xinhuamed.com.cn.
Zhang; Pediatric Endocrinology and Genetic, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Kongjiang Road 1665 #, Shanghai, 200092, China.

Metab Brain Dis ; 38(6): 2013-2023, 2023 08.

Article en En | MEDLINE | ID: mdl-37014526

Asunto(s)

Mucopolisacaridosis III; Niño; Preescolar; Humanos; Lactante; Acetiltransferasas/genética; Acetiltransferasas/química; Alelos; Pueblos del Este de Asia; Heparitina Sulfato; Mucopolisacaridosis III/diagnóstico; Mucopolisacaridosis III/genética; Mutación/genética

Palabras clave

Heparan sulfate; Lysosomal storage disease; Mucopolysaccharidosis type IIIC; Sanfilippo syndrome

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mucopolisacaridosis III Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Child / Child, preschool / Humans / Infant Idioma: En Revista: Metab Brain Dis Asunto de la revista: CEREBRO / METABOLISMO Año: 2023 Tipo del documento: Article País de afiliación: China

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