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Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
Borgwardt, Line; Stensland, Hilde Monica Frostad Riise; Olsen, Klaus Juul; Wibrand, Flemming; Klenow, Helle Bagterp; Beck, Michael; Amraoui, Yasmina; Arash, Laila; Fogh, Jens; Nilssen, Øivind; Dali, Christine I; Lund, Allan Meldgaard.
Afiliação
  • Borgwardt L; Department of Clinical Genetics, Centre for Inherited Metabolic Diseases, Copenhagen University Hospital Rigshospitalet, 9 Blegdamsvej, 2100, Copenhagen, Denmark. line.gutte.borgwardt@regionh.dk.
  • Stensland HM; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø, Norway. hilde.monica.stensland@unn.no.
  • Olsen KJ; Larix, CRO, Ballerup, Denmark. kjo@larix.dk.
  • Wibrand F; Department of Clinical Genetics, Centre for Inherited Metabolic Diseases, Copenhagen University Hospital Rigshospitalet, 9 Blegdamsvej, 2100, Copenhagen, Denmark. Flemming.Wibrand@regionh.dk.
  • Klenow HB; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø, Norway. helle.klenow@unn.no.
  • Beck M; Zentrum für Kinder - und Jugendmedizin, Villa Metabolica, Mainz, Germany. Dr.M.Beck@t-online.de.
  • Amraoui Y; Zentrum für Kinder - und Jugendmedizin, Villa Metabolica, Mainz, Germany. Yasmin.Amraoui@unimedizin-mainz.de.
  • Arash L; Zentrum für Kinder - und Jugendmedizin, Villa Metabolica, Mainz, Germany. Laila.Arash-Kaps@unimedizin-mainz.de.
  • Fogh J; Zymenex A/S (Chiesi Group), Hilleroed, Denmark. jf@zymenex.com.
  • Nilssen Ø; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø, Norway. oivind.nilssen@uit.no.
  • Dali CI; Department of Clinical Medicine, Medical Genetics, University of North Norway, Tromsø, Norway. oivind.nilssen@uit.no.
  • Lund AM; Department of Clinical Genetics, Centre for Inherited Metabolic Diseases, Copenhagen University Hospital Rigshospitalet, 9 Blegdamsvej, 2100, Copenhagen, Denmark. christine.I.dali@regionh.dk.
Orphanet J Rare Dis ; 10: 70, 2015 Jun 06.
Article em En | MEDLINE | ID: mdl-26048034
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Manosidases / Alfa-Manosidose Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Manosidases / Alfa-Manosidose Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article