Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease
Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease
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Sofou, Kalliopi , Meier, Kolja , Sanderson, Leslie E , Kaminski, Debora , Montoliu‐Gaya, Laia , Samuelsson, Emma , Blomqvist, Maria , Agholme, Lotta , Gärtner, Jutta , Mühlhausen, Chris , Darin, Niklas , Barakat, Tahsin Stefan , Schlotawa, Lars , van Ham, Tjakko , Asin Cayuela, Jorge and Sterky, Fredrik H
Publisher
London: Nature Publishing Group UK
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English
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Publisher
London: Nature Publishing Group UK
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Contents
Lysosomal storage diseases, including mucopolysaccharidoses, result from genetic defects that impair lysosomal catabolism. Here, we describe two patients from two independent families presenting with progressive psychomotor regression, delayed myelination, brain atrophy, neutropenia, skeletal abnormalities, and mucopolysaccharidosis‐like dysmorphic...
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Full title
Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease
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TN_cdi_doaj_primary_oai_doaj_org_article_4136db5871f54bce829ae48563537d48
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4136db5871f54bce829ae48563537d48
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ISSN
1757-4676,1757-4684
E-ISSN
1757-4684
DOI
10.15252/emmm.202013376
