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Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort.
Effraimidis, Grigoris; Feldt-Rasmussen, Ulla; Rasmussen, Åse Krogh; Lavoie, Pamela; Abaoui, Mona; Boutin, Michel; Auray-Blais, Christiane.
Afiliação
  • Effraimidis G; Medical Endocrinology, Copenhagen University Hospital, Copenhagen, Denmark.
  • Feldt-Rasmussen U; Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Rasmussen ÅK; Endocrinology, Rigshospitalet, Copenhagen, Denmark.
  • Lavoie P; Endocrinology, Rigshospitalet, Copenhagen, Denmark.
  • Abaoui M; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Quebec, Canada.
  • Boutin M; Pediatrics, Université de Sherbrooke, Sherbrooke, Quebec, Canada.
  • Auray-Blais C; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Quebec, Canada.
J Med Genet ; 58(10): 692-700, 2021 10.
Article em En | MEDLINE | ID: mdl-32963035

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Esfingolipídeos / Glicolipídeos / Doença de Fabry Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans País como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Esfingolipídeos / Glicolipídeos / Doença de Fabry Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans País como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article