Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays
Abstract Lysosomal storage disorders (LSDs) are a group of genetic disorders characterized by deficiency of specific lysosomal enzymes. In general, patients are clinically normal at birth, and progressively develop severe signs and symptoms. Diagnosis is usually made several years after onset of man...
Sábháilte in:
| Príomhchruthaitheoirí: | , , , , , , , , , , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe / Cruthaithe: |
Sociedade Brasileira de Genética
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| Sraith: | Genetics and Molecular Biology |
| Ábhair: | |
| Rochtain ar líne: | http://www.scielo.br/pdf/gmb/v43n2/1415-4757-GMB-43-2-e20180334.pdf |
| Clibeanna: |
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
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