Detalhe da pesquisa
1.
Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial ß-oxidation disorders.
FASEB J
; 38(4): e23478, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38372965
2.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35383965
3.
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
J Inherit Metab Dis
; 45(4): 819-831, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35403730
4.
Glucose transporter type 1 deficiency syndrome and the ketogenic diet.
J Inherit Metab Dis
; 43(2): 216-222, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31605543
5.
Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey.
Orphanet J Rare Dis
; 19(1): 21, 2024 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38245779
6.
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.
Mol Genet Metab Rep
; 31: 100873, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35782614
7.
Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency.
JIMD Rep
; 48(1): 11-14, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31392107