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Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.
Waterham, Hans R; Koster, Janet; Ebberink, Merel S; Jesina, Pavel; Zeman, Jiri; Nosková, Lenka; Kmoch, Stanislav; Devic, Perrine; Cheillan, David; Wanders, Ronald J A; Ferdinandusse, Sacha.
Affiliation
  • Waterham HR; Amsterdam UMC - AMC, Department of Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam Reproduction & Development, Amsterdam, The Netherlands; United for Metabolic Disea
  • Koster J; Amsterdam UMC - AMC, Department of Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.
  • Ebberink MS; Amsterdam UMC - AMC, Department of Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.
  • Jesina P; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague 2, Czech Republic.
  • Zeman J; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague 2, Czech Republic.
  • Nosková L; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague 2, Czech Republic.
  • Kmoch S; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague 2, Czech Republic.
  • Devic P; Centre Hospitalier Universitaire de Lyon, CHU Lyon·U 301, Hopital Neurologique, Bron, France.
  • Cheillan D; Service Biochimie et Biologie Moléculaire Grand Est, UM Pathologies Métaboliques, Erythrocytaires et Dépistage Périnatal, Centre de Biologie et de Pathologie Est, Groupement Hospitalier Est - Hospices Civils de Lyon, Bron Cedex, France.
  • Wanders RJA; Amsterdam UMC - AMC, Department of Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam Reproduction & Development, Amsterdam, The Netherlands; United for Metabolic Disea
  • Ferdinandusse S; Amsterdam UMC - AMC, Department of Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
Genet Med ; 25(11): 100944, 2023 11.
Article in En | MEDLINE | ID: mdl-37493040
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Zellweger Syndrome Type of study: Prognostic_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Country of publication:
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Zellweger Syndrome Type of study: Prognostic_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Country of publication: