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Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.
Lipinski, Patryk; Szczaluba, Krzysztof; Buda, Piotr; Zakharova, Ekaterina Y; Baydakova, Galina; Lugowska, Agnieszka; Rózdzynska-Swiatkowska, Agnieszka; Cyske, Zuzanna; Wegrzyn, Grzegorz; Pollak, Agnieszka; Ploski, Rafal; Tylki-Szymanska, Anna.
Affiliation
  • Lipinski P; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Szczaluba K; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
  • Buda P; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Zakharova EY; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Baydakova G; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Lugowska A; Department of Genetics, Institute of Psychiatry and Neurology, 02-957 Warsaw, Poland.
  • Rózdzynska-Swiatkowska A; Anthropology Laboratory, The Children's Memorial Health Institute, 04-736 Warsaw, Poland.
  • Cyske Z; Department of Molecular Biology, Faculty of Biology, University of Gdansk, 80-309 Gdansk, Poland.
  • Wegrzyn G; Department of Molecular Biology, Faculty of Biology, University of Gdansk, 80-309 Gdansk, Poland.
  • Pollak A; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
  • Ploski R; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
  • Tylki-Szymanska A; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
Int J Mol Sci ; 23(19)2022 Sep 28.
Article de En | MEDLINE | ID: mdl-36232726
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Mucopolysaccharidoses / Protéines du transport vésiculaire Type d'étude: Diagnostic_studies Limites: Humans Pays/Région comme sujet: Europa Langue: En Journal: Int J Mol Sci Année: 2022 Type de document: Article Pays d'affiliation: Pologne Pays de publication: Suisse
Texte intégral
Ajouter à My VHL
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XML
PubMed Links
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Mucopolysaccharidoses / Protéines du transport vésiculaire Type d'étude: Diagnostic_studies Limites: Humans Pays/Région comme sujet: Europa Langue: En Journal: Int J Mol Sci Année: 2022 Type de document: Article Pays d'affiliation: Pologne Pays de publication: Suisse