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Title: Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report

Journal Article · · Meta Gene
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Sponsoring Organization:
USDOE Office of Science (SC), Nuclear Physics (NP)
Grant/Contract Number:
4800848/2007-0; 305147/2007-2
OSTI ID:
1198091
Journal Information:
Meta Gene, Journal Name: Meta Gene Vol. 2 Journal Issue: C; ISSN 2214-5400
Publisher:
ElsevierCopyright Statement
Country of Publication:
Netherlands
Language:
English

References (12)

A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth journal January 2012
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands journal July 2009
Investigation of lysosomal storage diseases in nonimmune hydrops fetalis journal August 2004
Mutant Enzymatic and Cytological Phenotypes in Cultured Human Fibroblasts journal August 1967
Prenatal transient alveolomaxillary defect in a case of mucolipidosis II (I-cell disease) journal March 2010
Short Femurs Detected at 25 and 31 Weeks of Gestation Diagnosed as Leroy I-Cell Disease in the Postnatal Period: A Report of Two Cases journal January 2007
Prenatal diagnosis of mucolipidosis II—electron microscopy and biochemical evaluation journal March 1999
Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene journal July 2013
First trimester prenatal evaluation for I-cell disease by N-acetyl-glucosamine 1-phosphotransferase assay journal January 1988
UDP-N-acetylglucosamine:glycoprotein N-acetylglucosamine-1-phosphotransferase. Proposed enzyme for the phosphorylation of the high mannose oligosaccharide units of lysosomal enzymes. journal May 1981
Molecular order in mucolipidosis II and III nomenclature journal January 2008
Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia journal January 2005

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