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01-02-2017 | Clinical Brief

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

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

Published in: Indian Journal of Pediatrics | Issue 2/2017

Abstract

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 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.

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Title: I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis
Authors: Ankur Singh
Rajniti Prasad
Aditya Kumar Gupta
Anil Sharma
Sandra Alves
Maria Francisca Coutinho
Seema Kapoor
Om Prakash Mishra
Publication date: 01-02-2017
Publisher: Springer India
Published in: Indian Journal of Pediatrics / Issue 2/2017
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI: https://doi.org/10.1007/s12098-016-2243-7

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

Abstract

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Abstract

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