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Article

Mucolipidosis III type C: first-trimester biochemical and molecular prenatal diagnosis.

Prenatal diagnosis - 1 Mar 2003

Falik-Zaccai T C, Zeigler M, Bargal R, Bach G, Borochowitz Z, Raas-Rothschild A

Abstract excerpt

OBJECTIVES: 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...

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Identifiers

PMID: 12627421
DOI: 10.1002/pd.566

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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