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

Indian journal of pediatrics - 1 Feb 2017

Singh Ankur, Prasad Rajniti, Gupta Aditya Kumar, Sharma Anil, Alves Sandra, Coutinho Maria Francisca, Kapoor Seema, Mishra Om Prakash

Abstract excerpt

Mucopolysaccharidosis (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...

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PMID: 27785713
DOI: 10.1007/s12098-016-2243-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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