Search details
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.
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
J Med Genet
; 2023 Nov 08.
Article
in English
| MEDLINE | ID: mdl-37940383
3.
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.
J Inherit Metab Dis
; 2023 Dec 09.
Article
in English
| MEDLINE | ID: mdl-38069502
4.
Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.
J Inherit Metab Dis
; 45(3): 386-405, 2022 05.
Article
in English
| MEDLINE | ID: mdl-34997761
5.
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
J Inherit Metab Dis
; 45(4): 663-681, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35506430
6.
Determinants of cerebral radiological progression in Fabry disease.
J Neurol Neurosurg Psychiatry
; 91(7): 756-763, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32317398
7.
Developments in the treatment of Fabry disease.
J Inherit Metab Dis
; 43(5): 908-921, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32083331
8.
Cognitive functioning and depressive symptoms in Fabry disease: A follow-up study.
J Inherit Metab Dis
; 43(5): 1070-1081, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32510623
9.
Subclinical effects of long-chain fatty acid ß-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
J Inherit Metab Dis
; 43(5): 969-980, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32463482
10.
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
J Inherit Metab Dis
; 43(3): 424-437, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31828787
11.
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis
; 43(4): 787-799, 2020 07.
Article
in English
| MEDLINE | ID: mdl-31955429
12.
Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease.
Int J Mol Sci
; 21(16)2020 Aug 12.
Article
in English
| MEDLINE | ID: mdl-32806627
13.
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
14.
Development and clinical consequences of white matter lesions in Fabry disease: a systematic review.
Mol Genet Metab
; 125(3): 205-216, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30213639
15.
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.
J Inherit Metab Dis
; 41(6): 1247-1258, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30083803
16.
The role of the clinician in the multi-omics era: are you ready?
J Inherit Metab Dis
; 41(3): 571-582, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29362952
17.
Mucolipidosis type III, a series of adult patients.
J Inherit Metab Dis
; 41(5): 839-848, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29704188
18.
Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease.
Mol Genet Metab
; 121(2): 157-161, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28495078
19.
A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI.
Mol Genet Metab
; 121(3): 241-251, 2017 07.
Article
in English
| MEDLINE | ID: mdl-28552677
20.
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
Eur J Paediatr Neurol
; 49: 141-154, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38554683