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Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment.
Senarathne, Udara Dilrukshi; Jasinge, Eresha; Viknarajah Mohan, Sarojini; Waidyanatha, Samantha.
Afiliación
  • Senarathne UD; Department of Biochemistry, Faculty of Medical Sciences, University of Sri Jayewardenepura, Nugegoda, Sri Lanka udara.senarathne@sjp.ac.lk.
  • Jasinge E; Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Borella, Sri Lanka.
  • Viknarajah Mohan S; Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Borella, Sri Lanka.
  • Waidyanatha S; Paediatric Unit, Lady Ridgeway Hospital for Children, Borella, Western, Sri Lanka.
BMJ Case Rep ; 15(3)2022 Mar 09.
Article en En | MEDLINE | ID: mdl-35264382

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Child / Humans / Infant Idioma: En Revista: BMJ Case Rep Año: 2022 Tipo del documento: Article País de afiliación: Sri Lanka

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Child / Humans / Infant Idioma: En Revista: BMJ Case Rep Año: 2022 Tipo del documento: Article País de afiliación: Sri Lanka