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Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
Janecke, Andreas R; Xu, Ruijuan; Steichen-Gersdorf, Elisabeth; Waldegger, Siegfried; Entenmann, Andreas; Giner, Thomas; Krainer, Iris; Huber, Lukas A; Hess, Michael W; Frishberg, Yaacov; Barash, Hila; Tzur, Shay; Schreyer-Shafir, Nira; Sukenik-Halevy, Rivka; Zehavi, Tania; Raas-Rothschild, Annick; Mao, Cungui; Müller, Thomas.
Afiliação
  • Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
  • Xu R; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Steichen-Gersdorf E; Department of Medicine, State University of New York (SUNY) at Stony Brook, Stony Brook, New York.
  • Waldegger S; Stony Brook Cancer Center at State University of New York (SUNY) at Stony Brook, Stony Brook, New York.
  • Entenmann A; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
  • Giner T; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
  • Krainer I; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
  • Huber LA; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
  • Hess MW; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
  • Frishberg Y; Division of Cell Biology, Medical University of Innsbruck, Innsbruck, Austria.
  • Barash H; Division of Histology and Embryology, Medical University of Innsbruck, Innsbruck, Austria.
  • Tzur S; Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel.
  • Schreyer-Shafir N; Institute of Rare Diseases, Institute of Genetics, Sheba Medical center, Tel Hashomer, Israel.
  • Sukenik-Halevy R; Laboratory of Molecular Medicine, Rambam Health Care Campus, Haifa, Israel.
  • Zehavi T; Genomic Research Department, Emedgene Technologies, Tel Aviv, Israel.
  • Raas-Rothschild A; Genetics Institute, Meir Medical Center, Kfar Saba, Israel.
  • Mao C; Genetics Institute, Meir Medical Center, Kfar Saba, Israel.
  • Müller T; Sackler school of medicine, Tel Aviv University, Ramat Aviv, Israel.
Hum Mutat ; 38(4): 365-372, 2017 04.
Article em En | MEDLINE | ID: mdl-28181337
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Calcinose / Doenças das Glândulas Suprarrenais / Aldeído Liases / Mutação / Síndrome Nefrótica Tipo de estudo: Risk_factors_studies Limite: Adult / Animals / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Calcinose / Doenças das Glândulas Suprarrenais / Aldeído Liases / Mutação / Síndrome Nefrótica Tipo de estudo: Risk_factors_studies Limite: Adult / Animals / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Ano de publicação: 2017 Tipo de documento: Article