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TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
Radenkovic, Silvia; Martinelli, Diego; Zhang, Yuebo; Preston, Graeme J; Maiorana, Arianna; Terracciano, Alessandra; Dentici, Maria Lisa; Pisaneschi, Elisa; Novelli, Antonio; Ranatunga, Wasantha; Ligezka, Anna N; Ghesquière, Bart; Deyle, David R; Kozicz, Tamas; Pinto E Vairo, Filippo; Witters, Peter; Morava, Eva.
Afiliação
  • Radenkovic S; Department of Clinical Genomics, Mayo Clinic, Rochester, MN; Laboratory of Hepatology, Department of Chronic Diseases and Metabolism, KU Leuven, Leuven, Belgium; Metabolomics Expertise Center, Center for Cancer Biology, VIB-KU Leuven, Leuven, Belgium; Metabolomics Expertise Center, Department of Onc
  • Martinelli D; Division of Metabolism, Department of Pediatrics Specialties, Bambino Gesù Children's Research Hospital, Rome, Italy.
  • Zhang Y; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.
  • Preston GJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.
  • Maiorana A; Division of Metabolism, Department of Pediatrics Specialties, Bambino Gesù Children's Research Hospital, Rome, Italy.
  • Terracciano A; Division of Metabolism, Department of Pediatrics Specialties, Bambino Gesù Children's Research Hospital, Rome, Italy.
  • Dentici ML; Medical Genetics Unit, Bambino Gesù Children Hospital IRCCS, Rome, Italy.
  • Pisaneschi E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital IRCCS, Rome, Italy.
  • Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital IRCCS, Rome, Italy.
  • Ranatunga W; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.
  • Ligezka AN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.
  • Ghesquière B; Metabolomics Expertise Center, Center for Cancer Biology, VIB-KU Leuven, Leuven, Belgium; Metabolomics Expertise Center, Department of Oncology, KU Leuven, Leuven, Belgium.
  • Deyle DR; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.
  • Kozicz T; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.
  • Pinto E Vairo F; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.
  • Witters P; Metabolic Center, University Hospitals Leuven, Leuven, Belgium; Department of Development and Regeneration, Faculty of Medicine, KU Leuven, Leuven, Belgium.
  • Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN; Metabolic Center, University Hospitals Leuven, Leuven, Belgium; Department of Medical Genetics, Medical School, University of Pécs, Pecs, Hungary. Electronic address: Morava-kozicz.eva@mayo.edu.
Genet Med ; 24(4): 894-904, 2022 04.
Article em En | MEDLINE | ID: mdl-35042660
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Deficiência Intelectual / Microcefalia Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Deficiência Intelectual / Microcefalia Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de publicação: Estados Unidos