Search details
1.
The physiological functions of human peroxisomes.
Physiol Rev
; 103(1): 957-1024, 2023 01 01.
Article
in English
| MEDLINE | ID: mdl-35951481
2.
Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial ß-oxidation disorders.
FASEB J
; 38(4): e23478, 2024 Feb 29.
Article
in English
| MEDLINE | ID: mdl-38372965
3.
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
Hum Mol Genet
; 31(21): 3597-3612, 2022 10 28.
Article
in English
| MEDLINE | ID: mdl-35147173
4.
Disorders of fatty acid homeostasis.
J Inherit Metab Dis
; 2024 May 01.
Article
in English
| MEDLINE | ID: mdl-38693715
5.
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
6.
Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases.
J Allergy Clin Immunol
; 152(4): 1025-1031.e2, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37364720
7.
Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.
Genet Med
; 25(11): 100944, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37493040
8.
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
9.
D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.
Am J Med Genet A
; 188(1): 357-363, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34623748
10.
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
11.
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
12.
3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.
J Inherit Metab Dis
; 45(3): 445-455, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35174513
13.
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
14.
Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
J Inherit Metab Dis
; 45(6): 1094-1105, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36053831
15.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genet Med
; 23(4): 740-750, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33239752
16.
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
Am J Med Genet A
; 185(1): 157-167, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33112498
17.
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
Am J Hum Genet
; 101(6): 965-976, 2017 Dec 07.
Article
in English
| MEDLINE | ID: mdl-29220678
18.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Article
in English
| MEDLINE | ID: mdl-28132690
19.
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Mol Genet Metab
; 129(3): 171-176, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31954591
20.
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.
Am J Med Genet A
; 182(4): 780-784, 2020 04.
Article
in English
| MEDLINE | ID: mdl-32022391