Detalhe da pesquisa
1.
Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein.
J Biol Chem
; 299(9): 105047, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37451483
2.
Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
Br J Haematol
; 200(2): 249-255, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36177683
3.
Viral, Bacterial, Metabolic, and Autoimmune Causes of Severe Acute Encephalopathy in Sub-Saharan Africa: A Multicenter Cohort Study.
J Pediatr
; 258: 113360, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36828342
4.
Multi-country metabolic signature discovery for chicken health classification.
Metabolomics
; 19(2): 9, 2023 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36732451
5.
Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants.
Int J Mol Sci
; 24(4)2023 Feb 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36835444
6.
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
Am J Hum Genet
; 105(3): 534-548, 2019 09 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31422819
7.
The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism.
J Inherit Metab Dis
; 45(2): 353-365, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34671987
8.
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.
Hum Mol Genet
; 28(1): 96-104, 2019 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30239721
9.
Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia.
Br J Haematol
; 193(6): 1185-1193, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33997957
10.
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.
Genet Med
; 23(3): 524-533, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33188300
11.
Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency.
Haematologica
; 106(10): 2720-2725, 2021 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33054133
12.
Inborn disorders of the malate aspartate shuttle.
J Inherit Metab Dis
; 44(4): 792-808, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33990986
13.
Metabolomics in Severe Aortic Stenosis Reveals Intermediates of Nitric Oxide Synthesis as Most Distinctive Markers.
Int J Mol Sci
; 22(7)2021 Mar 30.
Artigo
Inglês
| MEDLINE | ID: mdl-33808189
14.
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Am J Hum Genet
; 100(1): 151-159, 2017 Jan 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27989324
15.
MetaboShiny: interactive analysis and metabolite annotation of mass spectrometry-based metabolomics data.
Metabolomics
; 16(9): 99, 2020 09 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32915321
16.
Dissemination and analysis of the quality assurance (QA) and quality control (QC) practices of LC-MS based untargeted metabolomics practitioners.
Metabolomics
; 16(10): 113, 2020 10 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33044703
17.
Inborn errors of enzymes in glutamate metabolism.
J Inherit Metab Dis
; 43(2): 200-215, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31603991
18.
Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling.
J Inherit Metab Dis
; 43(4): 843-851, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31990370
19.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-31828787
20.
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Brain
; 142(3): 542-559, 2019 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30668673