Glycogen storage disease type I.

Simple item page
dc.contributor.authorKavita, M M
dc.contributor.authorSangappa, Kashinakunti
dc.contributor.authorRamesh, Pattar
dc.contributor.authorBhuvaneshwari, Yelameli
dc.contributor.authorSajjan, Basavaraj
dc.contributor.authorDomble, V M
dc.date.accessioned2012-12-06T06:29:43Z
dc.date.available2012-12-06T06:29:43Z
dc.date.issued2012-07
dc.description.abstractGlycogen storage diseases (GSD) are inherited autosomal recessive disorder.Type-IGSD(Von Gierkes disease) is due to glucose- 6-phosphatase defect, which mainly affects liver and is life threatening if not treated. The main features are fasting hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia. Here we present a case of six month female baby who presented with fever, abdominal distension and on investigation biochemical parameters were suggestive of type-I GSD.en_US
dc.identifier.citationKavita M M, Sangappa Kashinakunti, Ramesh Pattar, Bhuvaneshwari Yelameli, Sajjan Basavaraj, Domble V M. Glycogen storage disease type I. Medica Innovatica. 2012 July; 1(1): article8.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/143636
dc.language.isoenen_US
dc.source.urihttps://www.snmcbgk.in/Medica_Innovatica-_Print.pdfen_US
dc.subjectGlycogen storage diseaseen_US
dc.subjectVon Gierke’s diseaseen_US
dc.subject.meshGlucose-6-Phosphatase
dc.subject.meshGlycogen Storage Disease Type I --diagnosis
dc.subject.meshHumans
dc.subject.meshHypoglycemia --etiology
dc.subject.meshHyperlipidemias --etiology
dc.subject.meshHyperuricemia --etiology
dc.titleGlycogen storage disease type I.en_US
dc.typeArticleen_US
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
mi2012v1n1p_Article8.pdf
Size:
203.55 KB
Format:
Adobe Portable Document Format
Description:
Journal article
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Medica Innovatica