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http://purl.uniprot.org/citations/15840742http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/15840742http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/15840742http://www.w3.org/2000/01/rdf-schema#comment"

Context

Inborn errors in protein glycosylation, such as the congenital disorders of glycosylation (CDGs), generate multifaceted syndromes that impair many organ systems. We here report the diagnosis of the third known patient with CDG-Id.

Results

The patient's phenotype was extremely severe, and she succumbed at 19 d of age. Leading features included hyperinsulinemic hypoglycemia, and autopsy revealed islet cell hyperplasia with increased beta-cell mass. Other features were a Dandy-Walker malformation, facial dysmorphisms, and profound hypotonia. The patient carried a novel homozygous point mutation (512G>A) in the hALG3 gene, which encodes a mannosyltransferase. Lentiviral complementation with wild-type hALG3 corrects the biochemical defect in the patient's fibroblasts.

Conclusions

Our findings underscore the importance of proper glycosylation in several major organ systems and emphasize that CDG should be ruled out in patients with persistent hyperinsulinemic hypoglycemia of unknown etiology."xsd:string
http://purl.uniprot.org/citations/15840742http://purl.org/dc/terms/identifier"doi:10.1210/jc.2005-0250"xsd:string
http://purl.uniprot.org/citations/15840742http://purl.org/dc/terms/identifier"doi:10.1210/jc.2005-0250"xsd:string
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/author"Wang C."xsd:string
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/author"Wang C."xsd:string
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/author"Sun L."xsd:string
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/author"Sun L."xsd:string
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/author"Freeze H.H."xsd:string
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/author"Freeze H.H."xsd:string
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/author"Cohen J."xsd:string
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/author"Cohen J."xsd:string
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/author"Chung W.K."xsd:string
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/author"Chung W.K."xsd:string
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/author"Eklund E.A."xsd:string
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/author"Eklund E.A."xsd:string
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/date"2005"xsd:gYear
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/date"2005"xsd:gYear
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/name"J. Clin. Endocrinol. Metab."xsd:string
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/name"J. Clin. Endocrinol. Metab."xsd:string
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/pages"4371-4375"xsd:string
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/pages"4371-4375"xsd:string
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/title"Congenital disorder of glycosylation Id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia."xsd:string
http://purl.uniprot.org/citations/15840742http://purl.uniprot.org/core/title"Congenital disorder of glycosylation Id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia."xsd:string
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