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Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia.
Tornero, C; Navarro-Compán, V; Buño, A; Heath, K E; Díaz-Almirón, M; Balsa, A; Tenorio, J A; Quer, J; Aguado, P.
Affiliation
  • Tornero C; Department of Rheumatology, La Paz University Hospital, IdiPaz, Paseo de La Castellana, 261, 28046, Madrid, Spain. carolina.tornero@salud.madrid.org.
  • Navarro-Compán V; Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, La Paz University Hospital, Madrid, Spain. carolina.tornero@salud.madrid.org.
  • Buño A; Department of Rheumatology, La Paz University Hospital, IdiPaz, Paseo de La Castellana, 261, 28046, Madrid, Spain.
  • Heath KE; Department of Clinical Biochemistry, La Paz University Hospital, Madrid, Spain.
  • Díaz-Almirón M; Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, La Paz University Hospital, Madrid, Spain.
  • Balsa A; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, IdiPAZ, Universidad Autónoma de Madrid, Madrid, Spain.
  • Tenorio JA; CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), ISCIII, Madrid, Spain.
  • Quer J; Department of Biostatistics, La Paz University Hospital, Madrid, Spain.
  • Aguado P; Department of Rheumatology, La Paz University Hospital, IdiPaz, Paseo de La Castellana, 261, 28046, Madrid, Spain.
Orphanet J Rare Dis ; 17(1): 98, 2022 03 03.
Article in En | MEDLINE | ID: mdl-35241128

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Alkaline Phosphatase / Machine Learning / Hypophosphatasia Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Humans Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2022 Type: Article Affiliation country: Spain

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Alkaline Phosphatase / Machine Learning / Hypophosphatasia Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Humans Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2022 Type: Article Affiliation country: Spain