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Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ligezka, Anna N; Radenkovic, Silvia; Saraswat, Mayank; Garapati, Kishore; Ranatunga, Wasantha; Krzysciak, Wirginia; Yanaihara, Hitoshi; Preston, Graeme; Brucker, William; McGovern, Renee M; Reid, Joel M; Cassiman, David; Muthusamy, Karthik; Johnsen, Christin; Mercimek-Andrews, Saadet; Larson, Austin; Lam, Christina; Edmondson, Andrew C; Ghesquière, Bart; Witters, Peter; Raymond, Kimiyo; Oglesbee, Devin; Pandey, Akhilesh; Perlstein, Ethan O; Kozicz, Tamas; Morava, Eva.
Afiliação
  • Ligezka AN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.
  • Radenkovic S; Department of Medical Diagnostics, Faculty of Pharmacy, Jagiellonian University Medical College, Krakow, Poland.
  • Saraswat M; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.
  • Garapati K; Laboratory of Hepatology, Department of CHROMETA, KU Leuven, Leuven, Belgium.
  • Ranatunga W; Department of Oncology, KU Leuven, Leuven, Belgium.
  • Krzysciak W; Metabolomics Expertise Center, VIB-KU Leuven, Leuven, Belgium.
  • Yanaihara H; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
  • Preston G; Institute of Bioinformatics, Bangalore, India.
  • Brucker W; Manipal Academy of Higher Education (MAHE), Manipal, India.
  • McGovern RM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
  • Reid JM; Institute of Bioinformatics, Bangalore, India.
  • Cassiman D; Manipal Academy of Higher Education (MAHE), Manipal, India.
  • Muthusamy K; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
  • Johnsen C; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.
  • Mercimek-Andrews S; Department of Medical Diagnostics, Faculty of Pharmacy, Jagiellonian University Medical College, Krakow, Poland.
  • Larson A; Department of Urology, Saitama Medical University, Saitama, Japan.
  • Lam C; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.
  • Edmondson AC; Department of Pediatrics, Human Genetics, Rhode Island Hospital, Providence, RI.
  • Ghesquière B; Division of Oncology Research, Mayo Clinic College of Medicine, Rochester, MN.
  • Witters P; Division of Oncology Research, Mayo Clinic College of Medicine, Rochester, MN.
  • Raymond K; Laboratory of Hepatology, Department of CHROMETA, KU Leuven, Leuven, Belgium.
  • Oglesbee D; Department of Paediatrics, Metabolic Disease Center, University Hospitals Leuven, Leuven, Belgium.
  • Pandey A; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.
  • Perlstein EO; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.
  • Kozicz T; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Morava E; Department of Medical Genetics, University of Alberta, Stollery Children's Hospital, Alberta Health Services, Edmonton, AB, Canada.
Ann Neurol ; 90(6): 887-900, 2021 12.
Article em En | MEDLINE | ID: mdl-34652821
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rodanina / Sorbitol / Fosfotransferases (Fosfomutases) / Defeitos Congênitos da Glicosilação / Inibidores Enzimáticos / Tiazolidinas Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Mongólia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rodanina / Sorbitol / Fosfotransferases (Fosfomutases) / Defeitos Congênitos da Glicosilação / Inibidores Enzimáticos / Tiazolidinas Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Mongólia