Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 2.4.1.261 extracted from

  • AlSubhi, S.; AlHashem, A.; AlAzami, A.; Tlili, K.; AlShahwan, S.; Lefeber, D.; Alkuraya, F.; Tabarki, B.
    Further delineation of the ALG9-CDG phenotype (2016), JIMD Rep., 27, 107-112 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.4.1.261

Application

Application Comment Organism
medicine patients with ALG9-congenital disorder of glycosylation present with drug-resistant infantile epilepsy, hypotonia, dysmorphic features, failure to thrive, global developmental disability, and skeletal dysplasia. One patient presented with nonimmune hydrops fetalis, showing global atrophy with delayed myelination caused by homozygous mutation c.1075G>A, i.e. E359K Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9H6U8
-
-