Ontology highlight
ABSTRACT:
SUBMITTER: Ondruskova N
PROVIDER: S-EPMC7383996 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Ondruskova Nina N Honzik Tomas T Vondrackova Alzbeta A Stranecky Viktor V Tesarova Marketa M Zeman Jiri J Hansikova Hana H
Journal of inherited metabolic disease 20200407 4
Congenital disorders of glycosylation (CDG) represent a wide range of >140 inherited metabolic diseases, continually expanding not only with regards to the number of newly identified causative genes, but also the heterogeneity of the clinical and molecular presentations within each subtype. The deficiency of ATP6AP1, an accessory subunit of the vacuolar H<sup>+</sup> -ATPase, is a recently characterised N- and O-glycosylation defect manifesting with immunodeficiency, hepatopathy and cognitive im ...[more]