Source:http://linkedlifedata.com/resource/pubmed/id/10586187
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
1999-12-30
|
| pubmed:abstractText |
We describe clinical, biochemical, and molecular findings in a 2(1/2)-year-old girl with a phosphomannose isomerase deficiency who presented with severe and persistent hypoglycemia and subsequently developed protein-losing enteropathy, liver disease, and coagulopathy. Six months of therapy with mannose supplementation resulted in clinical improvement and partial correction of biochemical abnormalities.
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| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Dec
|
| pubmed:issn |
0022-3476
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
135
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
775-81
|
| pubmed:dateRevised |
2010-11-18
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| pubmed:meshHeading |
pubmed-meshheading:10586187-Child, Preschool,
pubmed-meshheading:10586187-Congenital Disorders of Glycosylation,
pubmed-meshheading:10586187-Dietary Supplements,
pubmed-meshheading:10586187-Female,
pubmed-meshheading:10586187-Humans,
pubmed-meshheading:10586187-Hypoglycemia,
pubmed-meshheading:10586187-Mannose,
pubmed-meshheading:10586187-Point Mutation,
pubmed-meshheading:10586187-Sequence Analysis, DNA
|
| pubmed:year |
1999
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| pubmed:articleTitle |
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.
|
| pubmed:affiliation |
Department of Medical Genetics, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports
|