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http://purl.uniprot.org/citations/18544793http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/18544793http://www.w3.org/2000/01/rdf-schema#comment"

Objective

To further define clinical features associated with the syndrome of diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl-ester lipase (CEL) gene and to assess the effects of pancreatic enzyme substitution therapy.

Research design and methods

Nine patients with CEL gene mutation, exocrine deficiency, and diabetes were treated and followed for 30 months.

Results

Treatment improved symptoms in seven of nine patients. Exocrine and endocrine function assessed by fecal elastase and A1C were not affected, although fecal lipid excretion was reduced. Vitamin E was low in all patients but increased with treatment (P < 0.001 at 30 months) and improved in five subjects. A predominantly demyelinating neuropathy was seen in a majority of patients, and carpal tunnel syndrome was common.

Conclusions

Pancreatic enzyme substitution alleviated symptoms and malabsorption and normalized vitamin E levels. Glycemic control was not significantly affected. The CEL syndrome seems associated with a demyelinating neuropathology."xsd:string
http://purl.uniprot.org/citations/18544793http://purl.org/dc/terms/identifier"doi:10.2337/dc07-2217"xsd:string
http://purl.uniprot.org/citations/18544793http://purl.uniprot.org/core/author"Bredrup C."xsd:string
http://purl.uniprot.org/citations/18544793http://purl.uniprot.org/core/author"Bindoff L."xsd:string
http://purl.uniprot.org/citations/18544793http://purl.uniprot.org/core/author"Holm P.I."xsd:string
http://purl.uniprot.org/citations/18544793http://purl.uniprot.org/core/author"Molven A."xsd:string
http://purl.uniprot.org/citations/18544793http://purl.uniprot.org/core/author"Raeder H."xsd:string
http://purl.uniprot.org/citations/18544793http://purl.uniprot.org/core/author"Vesterhus M."xsd:string
http://purl.uniprot.org/citations/18544793http://purl.uniprot.org/core/author"Njolstad P.R."xsd:string
http://purl.uniprot.org/citations/18544793http://purl.uniprot.org/core/author"Aurlien H."xsd:string
http://purl.uniprot.org/citations/18544793http://purl.uniprot.org/core/author"Berstad A."xsd:string
http://purl.uniprot.org/citations/18544793http://purl.uniprot.org/core/author"Gjesdal C.G."xsd:string
http://purl.uniprot.org/citations/18544793http://purl.uniprot.org/core/date"2008"xsd:gYear
http://purl.uniprot.org/citations/18544793http://purl.uniprot.org/core/name"Diabetes Care"xsd:string
http://purl.uniprot.org/citations/18544793http://purl.uniprot.org/core/pages"1738-1740"xsd:string
http://purl.uniprot.org/citations/18544793http://purl.uniprot.org/core/title"Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations."xsd:string
http://purl.uniprot.org/citations/18544793http://purl.uniprot.org/core/volume"31"xsd:string
http://purl.uniprot.org/citations/18544793http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/18544793
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http://purl.uniprot.org/uniprot/#_Q9UMB1-mappedCitation-18544793http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18544793