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1.
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
J Inherit Metab Dis
; 46(2): 232-242, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36515074
2.
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
J Inherit Metab Dis
; 44(3): 606-617, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33190319
3.
Hereditary orotic aciduria identified by newborn screening.
Front Genet
; 14: 1135267, 2023.
Article
in English
| MEDLINE | ID: mdl-36999056
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