2020
DOI: 10.1590/1678-4685-gmb-2018-0334
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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 manifestations, preventing patients to have the benefits of the early treatment. Newborn screening programs are being considered for LSDs to allow early diagnosis and treatment. The present study evaluated the feasibility of a … Show more

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Cited by 10 publications
(5 citation statements)
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“…One hundred percent of the enzyme activities of the affected patients fall between the previously reported ranges and the cutoff point reported by Uribe et al 18 and Bender et al 19 This fact allowed us to corroborate their diagnosis as affected and to propose the standardized protocols for DBS as a screening tool.…”
Section: Resultssupporting
confidence: 67%
“…One hundred percent of the enzyme activities of the affected patients fall between the previously reported ranges and the cutoff point reported by Uribe et al 18 and Bender et al 19 This fact allowed us to corroborate their diagnosis as affected and to propose the standardized protocols for DBS as a screening tool.…”
Section: Resultssupporting
confidence: 67%
“…The method was adapted in-house for microplates, but the results indicated a high proportion of false positives, especially for MPS I (46 for MPS I, 7 for MPS VI, 0 for Fabry, 14 for Gaucher, and 25 for Pompe). Urinary GAGs were measured by DMB to investigate the babies who tested positive for MPS (35 urines for the suspected MPS I out of 46 and 2 urines of the 6 suspected MPS VI), but all babies with available urine samples had normal GAG results [ 35 ].…”
Section: Methods and Resultsmentioning
confidence: 99%
“…These findings support the value of measuring lyso-Gb1 in dried blood spots as a means to conduct high-throughput newborn screening, first conducted by Kang et al in China [ 3 ]. Although few countries have newborn screening programs that include GD, high rates of false positives have been reported on the measurement of enzyme activity on dried blood spots [ 121 , 122 ], and second-tier analyses are being introduced. In North Eastern Italy, lyso-Gb1 testing on dried blood spots was found to have a positive predictive value of 100%, with all neonates returning elevated lyso-Gb1 confirmed as true positives for GD [ 121 ].…”
Section: Discussionmentioning
confidence: 99%