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Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype.
Kozák, Eszter; Bartstra, Jonas W; de Jong, Pim A; Mali, Willem P T M; Fülöp, Krisztina; Tokési, Natália; Pomozi, Viola; Risseeuw, Sara; Norel, Jeannette Ossewaarde-van; van Leeuwen, Redmer; Váradi, András; Spiering, Wilko.
Afiliación
  • Kozák E; Institute of Enzymology, Research Center for Natural Sciences, Hungarian Academy of Sciences Center of Excellence, 1117 Budapest, Hungary.
  • Bartstra JW; Department of Radiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
  • de Jong PA; Department of Radiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
  • Mali WPTM; Department of Radiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
  • Fülöp K; Institute of Enzymology, Research Center for Natural Sciences, Hungarian Academy of Sciences Center of Excellence, 1117 Budapest, Hungary.
  • Tokési N; Institute of Enzymology, Research Center for Natural Sciences, Hungarian Academy of Sciences Center of Excellence, 1117 Budapest, Hungary.
  • Pomozi V; Institute of Enzymology, Research Center for Natural Sciences, Hungarian Academy of Sciences Center of Excellence, 1117 Budapest, Hungary.
  • Risseeuw S; Department of Ophthalmology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
  • Norel JO; Department of Ophthalmology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
  • van Leeuwen R; Department of Ophthalmology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
  • Váradi A; Institute of Enzymology, Research Center for Natural Sciences, Hungarian Academy of Sciences Center of Excellence, 1117 Budapest, Hungary.
  • Spiering W; Department of Vascular Medicine, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
J Clin Med ; 12(3)2023 Jan 29.
Article en En | MEDLINE | ID: mdl-36769695
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: J Clin Med Año: 2023 Tipo del documento: Article País de afiliación: Hungria Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: J Clin Med Año: 2023 Tipo del documento: Article País de afiliación: Hungria Pais de publicación: Suiza