Detalhe da pesquisa
1.
Serum bile acids associate with liver volume in polycystic liver disease and decrease upon treatment with lanreotide.
Eur J Clin Invest
; 54(4): e14147, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38071418
2.
Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.
Clin Chem Lab Med
; 2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38456798
3.
Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.
Am J Med Genet A
; 191(1): 234-237, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271826
4.
Potential added value of combined DPYD/DPD genotyping and phenotyping to prevent severe toxicity in patients with a DPYD variant and decreased dihydropyrimidine dehydrogenase enzyme activity.
J Oncol Pharm Pract
; 29(1): 5-13, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34797200
5.
ß-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.
Mol Genet Metab
; 136(3): 177-185, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35151535
6.
DTYMK is essential for genome integrity and neuronal survival.
Acta Neuropathol
; 143(2): 245-262, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34918187
7.
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
J Inherit Metab Dis
; 45(5): 952-962, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35722880
8.
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism.
J Inherit Metab Dis
; 44(5): 1113-1123, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33843072
9.
Results of an explorative clinical evaluation suggest immediate and persistent post-reperfusion metabolic paralysis drives kidney ischemia reperfusion injury.
Kidney Int
; 98(6): 1476-1488, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32781105
10.
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.
Genet Med
; 22(10): 1589-1597, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820246
11.
Metabolic Profiling Associates with Disease Severity in Nonischemic Dilated Cardiomyopathy.
J Card Fail
; 26(3): 212-222, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31541741
12.
Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish.
J Inherit Metab Dis
; 43(5): 994-1001, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32441338
13.
Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.
J Inherit Metab Dis
; 43(3): 392-408, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31808946
14.
Dosage of 6-Mercaptopurine in Relation to Genetic TPMT and ITPA Variants: Toward Individualized Pediatric Acute Lymphoblastic Leukemia Maintenance Treatment.
J Pediatr Hematol Oncol
; 42(2): e94-e97, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31895215
15.
Metabolic events in HIV-infected patients using abacavir are associated with erythrocyte inosine triphosphatase activity.
J Antimicrob Chemother
; 74(1): 157-164, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304447
16.
Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias.
Eur Heart J
; 39(10): 864-873, 2018 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29377983
17.
Evolution of Dihydropyrimidine Dehydrogenase Diagnostic Testing in a Single Center during an 8-Year Period of Time.
Curr Ther Res Clin Exp
; 90: 1-7, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30510603
18.
Protein content and amino acid composition of commercially available plant-based protein isolates.
Amino Acids
; 50(12): 1685-1695, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30167963
19.
Impaired fertility and motor function in a zebrafish model for classic galactosemia.
J Inherit Metab Dis
; 41(1): 117-127, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28913702
20.
Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism.
J Inherit Metab Dis
; 41(3): 415-424, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29435781