Publication
I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis
| dc.contributor.author | Singh, Ankur | |
| dc.contributor.author | Prasad, Rajniti | |
| dc.contributor.author | Gupta, Aditya Kumar | |
| dc.contributor.author | Sharma, Anil | |
| dc.contributor.author | Alves, Sandra | |
| dc.contributor.author | Coutinho, Maria Francisca | |
| dc.contributor.author | Kapoor, Seema | |
| dc.contributor.author | Mishra, Om Prakash | |
| dc.date.accessioned | 2017-02-20T14:26:51Z | |
| dc.date.available | 2017-10-27T00:30:09Z | |
| dc.date.issued | 2017-02 | |
| dc.description.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. | pt_PT |
| dc.description.sponsorship | Coutinho MF is grantee from the FCT (SFRH/BPD/101965/2014). | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Indian J Pediatr. 2017 Feb;84(2):144-146. doi: 10.1007/s12098-016-2243-7. Epub 2016 Oct 27. | pt_PT |
| dc.identifier.doi | 10.1007/s12098-016-2243-7 | pt_PT |
| dc.identifier.issn | 0019-5456 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/4285 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Springer Verlag/ Dr. K C Chaudhuri Foundation | pt_PT |
| dc.relation.publisherversion | http://link.springer.com/article/10.1007%2Fs12098-016-2243-7 | pt_PT |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | pt_PT |
| dc.subject | GNPTAB | pt_PT |
| dc.subject | Mucolipidosis type II alpha/beta (ML II alpha/beta) | pt_PT |
| dc.subject | p-nitrocatechol sulphate (p-NCS) | pt_PT |
| dc.subject | Molecular characterization | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 146 | pt_PT |
| oaire.citation.startPage | 144-146 | pt_PT |
| oaire.citation.title | Indian Journal of Pediatrics | pt_PT |
| oaire.citation.volume | 84(2) | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | article | pt_PT |
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