| Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. | |
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MedLine Citation:
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PMID: 9525984 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Phosphomannose isomerase (PMI) deficiency is the cause of a new type of carbohydrate-deficient glycoprotein syndrome (CDGS). The disorder is caused by mutations in the PMI1 gene. The clinical phenotype is characterized by protein-losing enteropathy, while neurological manifestations prevailing in other types of CDGS are absent. Using standard diagnostic procedures, the disorder is indistinguishable from CDGS type Ia (phosphomannomutase deficiency). Daily oral mannose administration is a successful therapy for this new type of CDG syndrome classified as CDGS type Ib. |
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Authors:
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R Niehues; M Hasilik; G Alton; C Körner; M Schiebe-Sukumar; H G Koch; K P Zimmer; R Wu; E Harms; K Reiter; K von Figura; H H Freeze; H K Harms; T Marquardt |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: The Journal of clinical investigation Volume: 101 ISSN: 0021-9738 ISO Abbreviation: J. Clin. Invest. Publication Date: 1998 Apr |
Date Detail:
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Created Date: 1998-04-23 Completed Date: 1998-04-23 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 7802877 Medline TA: J Clin Invest Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 1414-20 Citation Subset: AIM; IM |
Affiliation:
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Klinik und Poliklinik für Kinderheilkunde, 48149 Münster, Germany. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Cells, Cultured Glycoproteins / metabolism* Glycosylation Humans Infant Male Mannose / therapeutic use* Mannose-6-Phosphate Isomerase / deficiency* Mutation Protein Processing, Post-Translational Protein-Losing Enteropathies / enzymology, genetics*, therapy Syndrome Transferrin / metabolism |
| Grant Support | |
ID/Acronym/Agency:
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R01 GM 49096/GM/NIGMS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Glycoproteins; 11096-37-0/Transferrin; 31103-86-3/Mannose; EC 5.3.1.8/Mannose-6-Phosphate Isomerase |
| Comments/Corrections | |
Comment In:
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J Clin Invest. 1998 Apr 1;101(7):1293-5
[PMID:
9525970
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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