Targeted Screening for Gaucher Disease in High Suspicion Patients and Clinical Profile of Screen Positives in a Large Pediatric Multispecialty Hospital.

Magar, Suvarna; Engade, Madhuri; Idhate, Tushar; Khambayate, Sachin; Nilofer, Shaikh; Kalia, Ana

Magar, Suvarna; Engade, Madhuri; Idhate, Tushar; Khambayate, Sachin; Nilofer, Shaikh; Kalia, Ana.

Afiliación

Magar S; Pediatrics, Mahatma Gandhi Missions (MGM) Medical College, MGM Institute of Health Sciences (IHS), Aurangabad, IND.
Engade M; Pediatrics, Mahatma Gandhi Missions (MGM) Institute of Health Sciences (IHS), Aurangabad, IND.
Idhate T; Pediatric Hematology, Mahatma Gandhi Missions (MGM) Medical College, MGM Institute of Health Sciences (IHS), Aurangabad, IND.
Khambayate S; Pediatrics, Amrut Bal Rugnalaya, Aurangabad, IND.
Nilofer S; Pediatrics, Mahatma Gandhi Missions (MGM) Hospital, MGM Institute of Health Sciences (IHS), Aurangabad, IND.
Kalia A; Pediatrics, Mahatma Gandhi Missions (MGM) Hospital, MGM Institute of Health Sciences (IHS), Aurangabad, IND.

Cureus ; 14(10): e29868, 2022 Oct.

Article en En | MEDLINE | ID: mdl-36348851

Palabras clave

enzyme replacement therapy; gaucher disease; imiglucerase; inborn errors of metabolism; lysosomal storage diseases

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Idioma: En Revista: Cureus Año: 2022 Tipo del documento: Article Pais de publicación: Estados Unidos

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