Detalhe da pesquisa
1.
Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.
Br J Haematol
; 183(4): 648-660, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30334577
2.
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
Mol Genet Metab
; 124(1): 50-56, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29580649
3.
Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.
Clin Chim Acta
; 539: 170-174, 2023 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36529270
4.
Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model.
Eur Thyroid J
; 12(6)2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37855424
5.
Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study.
J Clin Endocrinol Metab
; 106(11): e4487-e4496, 2021 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34171085
6.
Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.
Front Cell Dev Biol
; 9: 631655, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33585488
7.
Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening.
Hemoglobin
; 34(4): 354-65, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20642333
8.
Critical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands.
Eur J Endocrinol
; 183(3): 265-273, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32580148
9.
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization.
JIMD Rep
; 54(1): 68-78, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32685353
10.
Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.
Front Cell Dev Biol
; 8: 499, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32626714
11.
Newborn Screening for Sickle Cell Disease in Europe.
Int J Neonatal Screen
; 5(1): 15, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33072975
12.
Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands.
J Cyst Fibros
; 18(1): 54-63, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30146269
13.
Known and new delta globin gene mutations and their diagnostic significance.
Haematologica
; 91(1): 129-32, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16434382
14.
A new polyadenylation site mutation associated with a mild beta-thalassemia phenotype.
Haematologica
; 90(4): 551-2, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15820953
15.
[Sickle cell disease in heel injection screening. II]. / Sikkelcelziekte in de hielprikscreening. II.
Ned Tijdschr Geneeskd
; 153(18): 858-61, 2009 May 02.
Artigo
em Holandês
| MEDLINE | ID: mdl-19475864
16.
Implementing neonatal screening for haemoglobinopathies in the Netherlands.
J Med Screen
; 17(2): 58-65, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20660432
17.
Ggamma -37 (A-->T): a new nondeletional hereditary persistence of fetal hemoglobin determinant associated with the rare codon 91 (+T) delta0-thalassemia.
Hemoglobin
; 30(3): 371-7, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16840228
18.
A confidential inquiry estimating the number of patients affected with sickle cell disease and thalassemia major confirms the need for a prevention strategy in the Netherlands.
Hemoglobin
; 28(4): 287-96, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15658185