Detalhe da pesquisa
1.
Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.
Neurobiol Dis
; 174: 105862, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36113749
2.
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
3.
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.
Anal Chem
; 92(9): 6341-6348, 2020 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31922725
4.
Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots.
Genet Med
; 22(10): 1606-1612, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32523054
5.
Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.
Genome Biol
; 24(1): 172, 2023 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37480112