Mucolipidoses--II: A report of three cases.

Simple item page
dc.contributor.authorLalwani, S Gen_US
dc.contributor.authorKher, Aen_US
dc.contributor.authorShridhar, Nen_US
dc.contributor.authorBharucha, B Aen_US
dc.contributor.authorNaik, G Gen_US
dc.date.accessioned1995-09-01en_US
dc.date.accessioned2009-05-30T16:22:45Z
dc.date.available1995-09-01en_US
dc.date.available2009-05-30T16:22:45Z
dc.date.issued1995-09-01en_US
dc.description.abstractMucolipidoses II is a rare lysosomal storage disorder with autosomal recessive inheritance. There cases with typical clinical features in early infancy like coarse facial features, severe psychomotor retardation and joint contractures are being reported. All the cases had no mucopolysacchariduria. These cases had normal values of lysosomal enzymes in leucocytes but markedly increased values in serum thus confirming mucolipidoses II. Despite the fact that there is no specific treatment, genetic counselling and prenatal diagnosis is indicated.en_US
dc.description.affiliationDepartment of Pediatrics, King Edward VII Memorial Hospital, Bombay.en_US
dc.identifier.citationLalwani SG, Kher A, Shridhar N, Bharucha BA, Naik GG. Mucolipidoses--II: A report of three cases. Indian Journal of Pediatrics. 1995 Sep-Oct; 62(5): 611-4en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/84511
dc.language.isoengen_US
dc.source.urihttps://medind.nic.in/icb/icbai.shtmlen_US
dc.subject.meshChromosome Aberrations --geneticsen_US
dc.subject.meshChromosome Disordersen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenes, Recessive --geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMaleen_US
dc.subject.meshMucolipidoses --diagnosisen_US
dc.subject.meshPhenotypeen_US
dc.titleMucolipidoses--II: A report of three cases.en_US
dc.typeJournal Articleen_US
Files
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.79 KB
Format:
Plain Text
Description:
Download
Collections
Indian Journal of Pediatrics
Load more