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Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Cechová, Anna; Honzík, Tomás; Edmondson, Andrew C; Ficicioglu, Can; Serrano, Mercedes; Barone, Rita; De Lonlay, Pascale; Schiff, Manuel; Witters, Peter; Lam, Christina; Patterson, Marc; Janssen, Mirian C H; Correia, Joana; Quelhas, Dulce; Sykut-Cegielska, Jolanta; Plotkin, Horacio; Morava, Eva; Sarafoglou, Kyriakie.
Afiliación
  • Cechová A; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Honzík T; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Edmondson AC; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, USA.
  • Ficicioglu C; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, USA.
  • Serrano M; Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Spain.
  • Barone R; Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
  • De Lonlay P; Necker Hospital, APHP, Reference Center for Inborn Errors of Metabolism, University of Paris, Paris, France; Inserm UMR_S1163, Institut Imagine, Paris, France.
  • Schiff M; Necker Hospital, APHP, Reference Center for Inborn Errors of Metabolism, University of Paris, Paris, France.
  • Witters P; Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.
  • Lam C; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.
  • Patterson M; Department of Clinical Genomics-Department of Laboratory Medicine and Pathology, Mayo Clinic, MN, USA.
  • Janssen MCH; Radboud University Medical Centre, Department of Internal Medicine, Nijmegen, the Netherlands.
  • Correia J; Centro Hospitalar Universitário do Porto, Porto, Portugal.
  • Quelhas D; Centro Hospitalar Universitário do Porto, Porto, Portugal.
  • Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, the Institute of Mother and Child, Warsaw, Poland.
  • Plotkin H; Glycomine, Inc, San Francisco, CA, USA; Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA. Electronic address: hplotkin@glycomine.com.
  • Morava E; Department of Clinical Genomics-Department of Laboratory Medicine and Pathology, Mayo Clinic, MN, USA. Electronic address: morava-kozicz.eva@mayo.edu.
  • Sarafoglou K; Dept. of Pediatrics - Divisions of Endocrinology and Genetics & Metabolism, Dept. of Experimental & Clinical Pharmacology, University of Minnesota, USA.
Mol Genet Metab ; 133(4): 397-399, 2021 08.
Article en En | MEDLINE | ID: mdl-34140212
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfotransferasas (Fosfomutasas) / Insuficiencia Suprarrenal Tipo de estudio: Clinical_trials / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2021 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfotransferasas (Fosfomutasas) / Insuficiencia Suprarrenal Tipo de estudio: Clinical_trials / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2021 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Estados Unidos