Detalhe da pesquisa
1.
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots.
Genet Med
; 23(3): 555-561, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33214709
2.
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
Mol Genet Metab
; 124(2): 101-108, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29680633
3.
Response to Neeleman et al.
Genet Med
; 22(2): 439-440, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31570801
4.
Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs.
Mol Genet Metab Rep
; 12: 80-81, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28649517