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1.
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
J Med Genet
; 60(12): 1177-1185, 2023 Nov 27.
Article
in English
| MEDLINE | ID: mdl-37487700
2.
Sex-specific newborn screening for X-linked adrenoleukodystrophy.
J Inherit Metab Dis
; 46(1): 116-128, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36256460
3.
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
J Inherit Metab Dis
; 45(4): 804-818, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35383965
4.
Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.
J Clin Immunol
; 41(1): 99-108, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33070266
5.
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
J Inherit Metab Dis
; 42(3): 414-423, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30761551
6.
Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents.
Int J Neonatal Screen
; 10(1)2024 Mar 05.
Article
in English
| MEDLINE | ID: mdl-38535122
7.
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 15.
Article
in English
| MEDLINE | ID: mdl-36810319
8.
Towards Achieving Equity and Innovation in Newborn Screening across Europe.
Int J Neonatal Screen
; 8(2)2022 May 06.
Article
in English
| MEDLINE | ID: mdl-35645285
9.
Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.
Front Cell Dev Biol
; 9: 631655, 2021.
Article
in English
| MEDLINE | ID: mdl-33585488
10.
Regulatory landscape of providing information on newborn screening to parents across Europe.
Eur J Hum Genet
; 29(1): 67-78, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33040093
11.
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.
Int J Neonatal Screen
; 7(1)2021 Mar 05.
Article
in English
| MEDLINE | ID: mdl-33808002
12.
Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.
Front Cell Dev Biol
; 8: 499, 2020.
Article
in English
| MEDLINE | ID: mdl-32626714
13.
Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program.
Int J Neonatal Screen
; 4(4): 40, 2018 Dec.
Article
in English
| MEDLINE | ID: mdl-33072960
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