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1.
Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.
Mol Genet Metab
; 142(1): 108436, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38552449
2.
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Mol Genet Metab
; 142(1): 108349, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38458124
3.
Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.
Int J Neonatal Screen
; 10(1)2024 Mar 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-38535128
4.
Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20".
Int J Neonatal Screen
; 9(1)2023 Feb 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-36810320
5.
A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes.
Int J Neonatal Screen
; 8(2)2022 Mar 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-35466196
6.
Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe.
Int J Neonatal Screen
; 8(1)2022 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-35323199
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