Title:
I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis

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dc.contributor.authorAnkur Singh
dc.contributor.authorRajniti Prasad
dc.contributor.authorAditya Kumar Gupta
dc.contributor.authorAnil Sharma
dc.contributor.authorSandra Alves
dc.contributor.authorMaria Francisca Coutinho
dc.contributor.authorSeema Kapoor
dc.contributor.authorOm Prakash Mishra
dc.date.accessioned2026-02-07T08:32:28Z
dc.date.issued2017
dc.description.abstractMucopolysaccharidosis (MPS) and Mucolipidosis (ML) share common phenotypes (coarse facial features, organomegaly, dysostosis multiplex) despite having different molecular basis. Thus, they pose great diagnostic challenge to treating clinicians. Differentiating between the two conditions requires a battery of tests from screening to molecular diagnosis. Besides discussing differential diagnosis of MPS like features with negative urinary Glycosaminoglycans (GAG), the authors also discuss the utility of p-nitrocatechol sulphate based chemical test as an important screening tool, besides establishing molecular basis in index case. © 2016, Dr. K C Chaudhuri Foundation.
dc.identifier.doi10.1007/s12098-016-2243-7
dc.identifier.issn195456
dc.identifier.urihttps://doi.org/10.1007/s12098-016-2243-7
dc.identifier.urihttps://dl.bhu.ac.in/bhuir/handle/123456789/31121
dc.publisherSpringer India
dc.subjectGNPTAB
dc.subjectMolecular characterization
dc.subjectMucolipidosis type II alpha/beta (ML II alpha/beta)
dc.subjectp-nitrocatechol sulphate (p-NCS)
dc.titleI Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis
dc.typePublication
dspace.entity.typeArticle

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