Perinatal lethal Gaucher disease: A case report and review of literature.

Chida, Rie; Shimura, Masaru; Ishida, Yu; Suganami, Yusuke; Yamanaka, Gaku

Chida, Rie; Shimura, Masaru; Ishida, Yu; Suganami, Yusuke; Yamanaka, Gaku.

Afiliación

Chida R; Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, Japan. Electronic address: rie-c@tokyo-med.ac.jp.
Shimura M; Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, Japan.
Ishida Y; Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, Japan.
Suganami Y; Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, Japan.
Yamanaka G; Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, Japan.

Brain Dev ; 45(2): 134-139, 2023 Feb.

Article en En | MEDLINE | ID: mdl-36220738

Asunto(s)

Enfermedad de Gaucher; Humanos; Femenino; Embarazo; Enfermedad de Gaucher/complicaciones; Glucosilceramidasa/genética; Terapia de Reemplazo Enzimático; Hidropesía Fetal

Palabras clave

Enzyme replacement therapy; GBA gene; Gaucher disease; Glucocerebrosidase; Imiglucerase

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Gaucher Tipo de estudio: Prognostic_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: Brain Dev Año: 2023 Tipo del documento: Article Pais de publicación: Países Bajos

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google