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Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
Cassiman, David; Packman, Seymour; Bembi, Bruno; Turkia, Hadhami Ben; Al-Sayed, Moeenaldeen; Schiff, Manuel; Imrie, Jackie; Mabe, Paulina; Takahashi, Tsutomu; Mengel, Karl Eugen; Giugliani, Roberto; Cox, Gerald F.
Afiliação
  • Cassiman D; Metabolic Center, University of Leuven, Leuven, Belgium.
  • Packman S; University of California San Francisco, San Francisco, CA, United States.
  • Bembi B; Academic Medical Centre Hospital of Udine, Udine, Italy.
  • Turkia HB; La Rabta Hospital, Tunis, Tunisia.
  • Al-Sayed M; King Faisal Specialist Hospital& Research Center, Riyadh, Saudi Arabia.
  • Schiff M; University of Paris-Diderot, APHP and INSERM U1141, Reference Center for Inborn Errors of Metabolism, Robert-Debré Hospital, Paris, France.
  • Imrie J; Niemann-Pick Disease Group (UK), Tyne and Wear, UK.
  • Mabe P; Hospital Dr. Exequiel González Cortés, Santiago, Chile.
  • Takahashi T; Akita University School of Medicine, Akita, Japan.
  • Mengel KE; Villa Metabolica, Center of Pediatric and Adolescents Medicine, University Medical Center, Mainz, Germany.
  • Giugliani R; Medical Genetics Service, HCPA, Dep. Genetics, UFRGS and INAGEMP, Porto Alegre, Brazil.
  • Cox GF; Clinical Development, Sanofi Genzyme, Cambridge, MA, United States. Electronic address: gerald.cox@genzyme.com.
Mol Genet Metab ; 118(3): 206-213, 2016 07.
Article em En | MEDLINE | ID: mdl-27198631
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Niemann-Pick Tipo A / Doença de Niemann-Pick Tipo B Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Humans / Infant / Middle aged / Newborn Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Niemann-Pick Tipo A / Doença de Niemann-Pick Tipo B Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Humans / Infant / Middle aged / Newborn Idioma: En Ano de publicação: 2016 Tipo de documento: Article