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Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
Hagemeijer, Marne C; van den Bosch, Jeroen C; Bongaerts, Michiel; Jacobs, Edwin H; van den Hout, Johanna M P; Oussoren, Esmee; Ruijter, George J G.
Afiliación
  • Hagemeijer MC; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • van den Bosch JC; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Bongaerts M; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Jacobs EH; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • van den Hout JMP; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Oussoren E; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Ruijter GJG; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
J Inherit Metab Dis ; 46(2): 206-219, 2023 03.
Article en En | MEDLINE | ID: mdl-36752951
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II / Enfermedades por Almacenamiento Lisosomal / Mucopolisacaridosis IV / Mucolipidosis Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Humans Idioma: En Revista: J Inherit Metab Dis Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II / Enfermedades por Almacenamiento Lisosomal / Mucopolisacaridosis IV / Mucolipidosis Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Humans Idioma: En Revista: J Inherit Metab Dis Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos