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rdf:type |
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|
lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2003-3-10
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pubmed:abstractText |
Mucolipidosis IIIC (MLIIIC) is a rare autosomal recessive lysosomal storage disease resulting from defective mannose 6-phosphate-dependent lysosomal enzyme trafficking; mutations of the gamma subunit of N-acetylglucosamine-1 phosphotransferase (GINAcPT) were recently found to cause its pathogenesis. We report here for the first time prenatal diagnosis (PND) for MLIIIC by means of chorionic villous sampling (CVS).
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0197-3851
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2003 John Wiley & Sons, Ltd.
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pubmed:issnType |
Print
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pubmed:volume |
23
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
211-4
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:12627421-Arabs,
pubmed-meshheading:12627421-DNA Mutational Analysis,
pubmed-meshheading:12627421-Female,
pubmed-meshheading:12627421-Genetic Counseling,
pubmed-meshheading:12627421-Genotype,
pubmed-meshheading:12627421-Homozygote,
pubmed-meshheading:12627421-Humans,
pubmed-meshheading:12627421-Islam,
pubmed-meshheading:12627421-Lysosomes,
pubmed-meshheading:12627421-Male,
pubmed-meshheading:12627421-Mucolipidoses,
pubmed-meshheading:12627421-Pedigree,
pubmed-meshheading:12627421-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:12627421-Prenatal Diagnosis
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pubmed:year |
2003
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pubmed:articleTitle |
Mucolipidosis III type C: first-trimester biochemical and molecular prenatal diagnosis.
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pubmed:affiliation |
Division of Medical Genetics, Hospital for Western Galilee-Naharia, PO Box 21, Naharia 22100, Israel. falikt@naharia.health.gov.il
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pubmed:publicationType |
Journal Article,
Case Reports
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