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Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?
Tornero, C; Navarro-Compán, V; Tenorio, J A; García-Carazo, S; Buño, A; Monjo, I; Plasencia-Rodriguez, C; Iturzaeta, J M; Lapunzina, P; Heath, K E; Balsa, A; Aguado, P.
Afiliação
  • 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; Department of Rheumatology, La Paz University Hospital, IdiPAZ, Paseo de la Castellana, 261, 28046, Madrid, Spain.
  • Tenorio JA; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, IdiPAZ, Universidad Autónoma de Madrid, Madrid, Spain.
  • García-Carazo S; CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), ISCIII, Madrid, Spain.
  • Buño A; Department of Rheumatology, La Paz University Hospital, IdiPAZ, Paseo de la Castellana, 261, 28046, Madrid, Spain.
  • Monjo I; Department of Clinical Biochemistry, La Paz University Hospital, Madrid, Spain.
  • Plasencia-Rodriguez C; Department of Rheumatology, La Paz University Hospital, IdiPAZ, Paseo de la Castellana, 261, 28046, Madrid, Spain.
  • Iturzaeta JM; Department of Rheumatology, La Paz University Hospital, IdiPAZ, Paseo de la Castellana, 261, 28046, Madrid, Spain.
  • Lapunzina P; Department of Clinical Biochemistry, La Paz University Hospital, Madrid, Spain.
  • Heath KE; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, IdiPAZ, Universidad Autónoma de Madrid, Madrid, Spain.
  • Balsa A; CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), ISCIII, Madrid, Spain.
  • Aguado P; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, IdiPAZ, Universidad Autónoma de Madrid, Madrid, Spain.
Orphanet J Rare Dis ; 15(1): 51, 2020 02 17.
Article em En | MEDLINE | ID: mdl-32066479
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosfatase Alcalina / Hipofosfatasia Idioma: En Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Espanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosfatase Alcalina / Hipofosfatasia Idioma: En Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Espanha