Facetten
Zugriff
Einrichtung
Medientyp
- Text 3
Karte
Erscheinungsjahr
Autor/in
- Ludwig, Nataniel F
- Danyukova, Tatyana 2
- Güneş, Nilay 2
- Harms, Frederike L 2
- Tüysüz, Beyhan 2
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Sprache
- Englisch 3
3 Einträge gefunden
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Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
- Di Lorenzo, Giorgia
- Westermann, Lena M
- Schinke, Thorsten
- Stürznickel, Julian
- Ludwig, Nataniel F
- Ammer, Luise S
- Baranowsky, Anke
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Combined in-vitro and in-silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta
- Danyukova, Tatyana
- Ludwig, Nataniel F
- Velho, Renata Voltolini
- Harms, Frederike L
- Güneş, Nilay
- Tidow, Henning
- Schwartz, Ida V
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The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations
- Velho, Renata Voltolini
- Harms, Frederike L
- Danyukova, Tatyana
- Ludwig, Nataniel F
- Friez, Michael J
- Cathey, Sara S
- Filocamo, Mirella