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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.
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
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.
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
J Inherit Metab Dis
; 45(4): 819-831, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35403730
5.
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
6.
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
7.
Development and validation of a gas chromatography-mass spectrometry method to analyze octanoate enrichments at low concentrations in human plasma.
Anal Bioanal Chem
; 412(23): 5789-5797, 2020 Sep.
Article
in English
| MEDLINE | ID: mdl-32648105
8.
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.
Int J Mol Sci
; 21(7)2020 Apr 08.
Article
in English
| MEDLINE | ID: mdl-32276429
9.
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
J Inherit Metab Dis
; 42(5): 878-889, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31268564
10.
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
J Inherit Metab Dis
; 42(5): 890-897, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31012112
11.
Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis
; 42(1): 159-168, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30740737
12.
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
13.
Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.
Rev Endocr Metab Disord
; 19(1): 93-106, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29926323
14.
Monocarboxylate transporter 1 deficiency and ketone utilization.
N Engl J Med
; 371(20): 1900-7, 2014 Nov 13.
Article
in English
| MEDLINE | ID: mdl-25390740
15.
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Mol Genet Metab
; 122(1-2): 67-75, 2017 09.
Article
in English
| MEDLINE | ID: mdl-28689740
16.
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
J Neurogenet
; 31(1-2): 30-36, 2017.
Article
in English
| MEDLINE | ID: mdl-28460589
17.
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.
Genet Med
; 18(9): 949-56, 2016 09.
Article
in English
| MEDLINE | ID: mdl-26845106
18.
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
J Inherit Metab Dis
; 39(1): 47-58, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26109258
19.
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
J Inherit Metab Dis
; 39(5): 713-723, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27287710
20.
Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients.
Eur J Pediatr
; 175(7): 1001-6, 2016 Jul.
Article
in English
| MEDLINE | ID: mdl-27246831