| http://purl.uniprot.org/citations/11350186 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11350186 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11350186 | http://www.w3.org/2000/01/rdf-schema#comment | "We report the diagnosis and follow-up of two sibs reported in 1980 with recurrent venous thromboses and protein-losing enteropathy; one sib with biopsy-proven hepatic fibrosis died at age 5. The combination of symptoms was suggestive of the recently characterized congenital disorder of glycosylation type Ib (CDG-Ib), which is caused by a deficiency of the enzyme phosphomannose isomerase (PMI). An abnormal serum transferrin isoelectric focusing (IEF) pattern and a reduced PMI activity confirmed the diagnosis of CDG-Ib. Furthermore, mutational analysis of the MPI gene revealed two missense mutations, 419 T --> C (I140T) and 636 G --> A (R219Q), a single base substitution in intron 5, 670 + 9G --> A, as well as a polymorphism 1131A --> C (V377V) in both sibs. The surviving 33-year-old sib has had no further symptoms following childhood. Short-term low-dose oral mannose supplementation improved her transferrin IEF pattern and normalized her antithrombin III activity, further substantiating the beneficial effect of mannose in CDG-Ib. When her mannose blood level was measured, she showed a lower steady-state level but a faster mannose clearance rate. These results suggest that the clinical manifestations of PMI deficiency, although serious in childhood, can improve with age, even without mannose therapy, and allow for a normal adult life. However, the long-term prognosis may vary from patient to patient."xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.org/dc/terms/identifier | "doi:10.1006/mgme.2001.3161"xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.org/dc/terms/identifier | "doi:10.1006/mgme.2001.3161"xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/author | "Freeze H.H."xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/author | "Freeze H.H."xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/author | "Skovby F."xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/author | "Skovby F."xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/author | "Kjaergaard S."xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/author | "Kjaergaard S."xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/author | "Westphal V."xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/author | "Westphal V."xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/author | "Davis J.A."xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/author | "Davis J.A."xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/author | "Peterson S.M."xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/author | "Peterson S.M."xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/name | "Mol. Genet. Metab."xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/name | "Mol. Genet. Metab."xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/pages | "77-85"xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/pages | "77-85"xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/title | "Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation."xsd:string |
| http://purl.uniprot.org/citations/11350186 | http://purl.uniprot.org/core/title | "Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation."xsd:string |