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Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Radenkovic, Silvia; Fitzpatrick-Schmidt, Taylor; Byeon, Seul Kee; Madugundu, Anil K; Saraswat, Mayank; Lichty, Angie; Wong, Sunnie Y W; McGee, Stephen; Kubiak, Katharine; Ligezka, Anna; Ranatunga, Wasantha; Zhang, Yuebo; Wood, Tim; Friez, Michael J; Clarkson, Katie; Pandey, Akhilesh; Jones, Julie R; Morava, Eva.
  • Radenkovic S; Mayo Clinic, Department of Clinical Genomics, Rochester, MN, USA; Metabolomics Expertise Center, CCB, KU Leuven-VIB, Leuven, Belgium; Laboratory of Hepatology, Department of CHROMETA, KU Leuven, Leuven, Belgium. Electronic address: silvia.radenkovic@kuleuven.be.
  • Fitzpatrick-Schmidt T; Tulane University Medical School, New Orleans, LA, USA.
  • Byeon SK; Mayo Clinic, Department of Laboratory of Medical Pathology, Rochester, MN, USA.
  • Madugundu AK; Mayo Clinic, Department of Laboratory of Medical Pathology, Rochester, MN, USA; Institute of Bioinformatics, International Technology Park, Bangalore, Karnataka, India; Manipal Academy of Higher Education, Manipal, Karnataka, India.
  • Saraswat M; Mayo Clinic, Department of Laboratory of Medical Pathology, Rochester, MN, USA; Institute of Bioinformatics, International Technology Park, Bangalore, Karnataka, India; Manipal Academy of Higher Education, Manipal, Karnataka, India.
  • Lichty A; Greenwood Genetic Center, Greenwood, SC, USA.
  • Wong SYW; Tulane University Medical School, New Orleans, LA, USA; Stanford University, CA, USA.
  • McGee S; Greenwood Genetic Center, Greenwood, SC, USA.
  • Kubiak K; Greenwood Genetic Center, Greenwood, SC, USA.
  • Ligezka A; Mayo Clinic, Department of Clinical Genomics, Rochester, MN, USA.
  • Ranatunga W; Mayo Clinic, Department of Clinical Genomics, Rochester, MN, USA.
  • Zhang Y; Mayo Clinic, Department of Clinical Genomics, Rochester, MN, USA.
  • Wood T; Greenwood Genetic Center, Greenwood, SC, USA.
  • Friez MJ; Greenwood Genetic Center, Greenwood, SC, USA.
  • Clarkson K; Greenwood Genetic Center, Greenwood, SC, USA.
  • Pandey A; Mayo Clinic, Department of Laboratory of Medical Pathology, Rochester, MN, USA; Mayo Clinic, Center for Individualized Medicine, Rochester, MN, USA.
  • Jones JR; Greenwood Genetic Center, Greenwood, SC, USA.
  • Morava E; Mayo Clinic, Department of Clinical Genomics, Rochester, MN, USA; Mayo Clinic, Department of Laboratory of Medical Pathology, Rochester, MN, USA.
Mol Genet Metab ; 132(1): 27-37, 2021 01.
Article en En | MEDLINE | ID: mdl-33129689
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Predisposición Genética a la Enfermedad / Manosiltransferasas / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Predisposición Genética a la Enfermedad / Manosiltransferasas / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article