Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective.

Arslan, Nur; Coker, Mahmut; Gokcay, Gulden Fatma; Kiykim, Ertugrul; Onenli Mungan, Halise Neslihan; Ezgu, Fatih

Arslan, Nur; Coker, Mahmut; Gokcay, Gulden Fatma; Kiykim, Ertugrul; Onenli Mungan, Halise Neslihan; Ezgu, Fatih.

Afiliación

Arslan N; Division of Pediatric Metabolism, Department of Pediatrics, Dokuz Eylul University Faculty of Medicine, Izmir, Türkiye.
Coker M; Division of Pediatric Metabolism, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Türkiye.
Gokcay GF; Division of Pediatric Metabolism, Department of Pediatrics, Istanbul University Istanbul Faculty of Medicine, Istanbul, Türkiye.
Kiykim E; Division of Pediatric Metabolism, Department of Pediatrics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.
Onenli Mungan HN; Division of Pediatric Metabolism, Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Türkiye.
Ezgu F; Division of Pediatric Metabolism and Pediatric Genetics, Department of Pediatrics, Gazi University Faculty of Medicine, Ankara, Türkiye.

Front Pediatr ; 11: 1113422, 2023.

Article en En | MEDLINE | ID: mdl-37435168

Palabras clave

Niemann-Pick disease; acid sphingomyelinase deficiency; diagnostic algorithm; diagnostic delay; index of suspicion; prognosis

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Idioma: En Revista: Front Pediatr Año: 2023 Tipo del documento: Article Pais de publicación: Suiza

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