|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
3
|
|
pubmed:dateCreated |
2011-3-7
|
|
pubmed:abstractText |
Recessive mutations in the hydroxyacyl-CoA dehydrogenase (HADH) gene encoding the enzyme 3-hydroxyacyl-CoA dehydrogenase are a rare cause of diazoxide-responsive hyperinsulinemic hypoglycemia (HH) with just five probands reported to date. HADH deficiency in the first three identified patients was associated with detectable urinary 3-hydroxyglutarate and raised plasma 3-hydroxybutyryl-carnitine levels, but two recent cases did not have abnormal urine organic acids or acylcarnitines.
|
|
pubmed:grant |
|
|
pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/21252247-11489939,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21252247-14693719,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21252247-15870679,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21252247-16642444,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21252247-16925834,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21252247-17185391,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21252247-17491019,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21252247-17701893,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21252247-18036338,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21252247-19193661,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21252247-19318379,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21252247-19417036,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21252247-19690084,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21252247-20164212,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21252247-20670938,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21252247-21378225,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21252247-2884728,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21252247-9571255
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Mar
|
|
pubmed:issn |
1945-7197
|
|
pubmed:author |
pubmed-author:AkcayTeomanT,
pubmed-author:AlaeiMohammadrezaM,
pubmed-author:DesaiMeenaM,
pubmed-author:EllardSianS,
pubmed-author:FlanaganSarah ESE,
pubmed-author:HussainKhalidK,
pubmed-author:KapoorRitika RRR,
pubmed-author:LockeJonathan MJM,
pubmed-author:PatchAnn-MarieAM,
pubmed-author:SimsekEnverE,
pubmed-author:YektaZeinabZ
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
96
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
E498-502
|
|
pubmed:dateRevised |
2011-7-28
|
|
pubmed:meshHeading |
pubmed-meshheading:21252247-3-Hydroxyacyl CoA Dehydrogenases,
pubmed-meshheading:21252247-Cohort Studies,
pubmed-meshheading:21252247-Consanguinity,
pubmed-meshheading:21252247-Diazoxide,
pubmed-meshheading:21252247-Diuretics,
pubmed-meshheading:21252247-Female,
pubmed-meshheading:21252247-Genome-Wide Association Study,
pubmed-meshheading:21252247-Haplotypes,
pubmed-meshheading:21252247-Homozygote,
pubmed-meshheading:21252247-Humans,
pubmed-meshheading:21252247-Hyperinsulinism,
pubmed-meshheading:21252247-Hypoglycemia,
pubmed-meshheading:21252247-Infant,
pubmed-meshheading:21252247-Infant, Newborn,
pubmed-meshheading:21252247-Male,
pubmed-meshheading:21252247-Microsatellite Repeats,
pubmed-meshheading:21252247-Mutation,
pubmed-meshheading:21252247-Pedigree,
pubmed-meshheading:21252247-Polymorphism, Single Nucleotide
|
|
pubmed:year |
2011
|
|
pubmed:articleTitle |
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.
|
|
pubmed:affiliation |
Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter, EX2 5DW, United Kingdom.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
