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Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
Castiglioni, Claudia; Feillet, François; Barnerias, Christine; Wiedemann, Arnaud; Muchart, Jordi; Cortes, Fanny; Hernando-Davalillo, Cristina; Montero, Raquel; Dupré, Thierry; Bruneel, Arnaud; Seta, Nathalie; Vuillaumier-Barrot, Sandrine; Serrano, Mercedes.
Afiliação
  • Castiglioni C; Department of Pediatric Neurology, Rare Disease Center, Clínica Las Condes, Santiago, Chile.
  • Feillet F; Department of Pediatrics, Reference Center for Inborn Errors of Metabolism, University Hospital of Nancy, Nancy, France.
  • Barnerias C; INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, Nancy, France.
  • Wiedemann A; Pediatric Neurology Department, Center de Référence Maladies Neuromusculaires (GNMH), Necker University Hospital, AP-HP, Paris, France.
  • Muchart J; Department of Pediatrics, Reference Center for Inborn Errors of Metabolism, University Hospital of Nancy, Nancy, France.
  • Cortes F; INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, Nancy, France.
  • Hernando-Davalillo C; Department of Radiology, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
  • Montero R; Pediatric Department. Rare Diseases Center, Clínica Las Condes, Santiago, Chile.
  • Dupré T; Department of Genetic and Molecular Medicine and Pediatric Institute of Rare Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Bruneel A; Clinical Biochemistry Department, Institut de Recerca Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
  • Seta N; Unit-703 Center for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Madrid, Spain.
  • Vuillaumier-Barrot S; Service de Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, AP-HP, Paris, France.
  • Serrano M; INSERM UMR_S 1149, Faculté de Médecine Xavier Bichat, Université de Paris, Paris, France.
Hum Mutat ; 42(2): 142-149, 2021 02.
Article em En | MEDLINE | ID: mdl-33300232
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Ligação ao Cálcio / Glicoproteínas de Membrana / Receptores de Peptídeos / Receptores Citoplasmáticos e Nucleares / Defeitos Congênitos da Glicosilação Tipo de estudo: Diagnostic_studies Limite: Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Ligação ao Cálcio / Glicoproteínas de Membrana / Receptores de Peptídeos / Receptores Citoplasmáticos e Nucleares / Defeitos Congênitos da Glicosilação Tipo de estudo: Diagnostic_studies Limite: Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article