Detalhe da pesquisa
1.
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria.
Hum Mol Genet
; 32(17): 2717-2734, 2023 08 26.
Artigo
Inglês
| MEDLINE | ID: mdl-37369025
2.
DBS are suitable for 1,5-anhydroglucitol monitoring in GSD1b and G6PC3-deficient patients taking SGLT2 inhibitors to treat neutropenia.
Mol Genet Metab
; 140(3): 107712, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-38353183
3.
Lactic acidosis after allogeneic haematopoietic stem cell transplantation potentially related to letermovir.
Br J Clin Pharmacol
; 89(5): 1686-1689, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36748282
4.
Human cytosolic transaminases: side activities and patterns of discrimination towards physiologically available alternative substrates.
Cell Mol Life Sci
; 79(8): 421, 2022 Jul 14.
Artigo
Inglês
| MEDLINE | ID: mdl-35834009
5.
ECHDC1 knockout mice accumulate ethyl-branched lipids and excrete abnormal intermediates of branched-chain fatty acid metabolism.
J Biol Chem
; 297(4): 101083, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34419447
6.
Disorders of purine biosynthesis metabolism.
Mol Genet Metab
; 136(3): 190-198, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34998670
7.
Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency.
Proc Natl Acad Sci U S A
; 116(4): 1241-1250, 2019 01 22.
Artigo
Inglês
| MEDLINE | ID: mdl-30626647
8.
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
Ann Neurol
; 85(3): 385-395, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30635937
9.
The synthesis of branched-chain fatty acids is limited by enzymatic decarboxylation of ethyl- and methylmalonyl-CoA.
Biochem J
; 476(16): 2427-2447, 2019 08 30.
Artigo
Inglês
| MEDLINE | ID: mdl-31416829
10.
A fortuitous but characteristic blood smear observation allowing a late diagnosis of MPS-VII.
Clin Chem Lab Med
; 60(3): 85-87, 2022 02 23.
Artigo
Inglês
| MEDLINE | ID: mdl-34913623
11.
Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.
Mol Genet Metab
; 118(3): 185-189, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27233227
12.
Neurological presentations of inborn errors of purine and pyrimidine metabolism.
Eur J Paediatr Neurol
; 48: 69-77, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-38056117
13.
Tacrolimus Pharmacokinetics is Associated with Gut Microbiota Diversity in Kidney Transplant Patients: Results from a Pilot Cross-Sectional Study.
Clin Pharmacol Ther
; 115(1): 104-115, 2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37846607
14.
Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study.
Eur J Paediatr Neurol
; 49: 60-65, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38377647
15.
Carnitine Deficiency after Long-Term Continuous Renal Replacement Therapy.
Case Rep Crit Care
; 2022: 4142539, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36035086
16.
Unexplained Metabolic Acidosis: Alcoholic Ketoacidosis or Propylene Glycol Toxicity.
J Med Toxicol
; 18(2): 155-158, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35043364
17.
Urine metabolomics links dysregulation of the tryptophan-kynurenine pathway to inflammation and severity of COVID-19.
Sci Rep
; 12(1): 9959, 2022 06 15.
Artigo
Inglês
| MEDLINE | ID: mdl-35705608
18.
HYGIEIA: HYpothesizing the Genesis of Infectious Diseases and Epidemics through an Integrated Systems Biology Approach.
Viruses
; 14(7)2022 06 23.
Artigo
Inglês
| MEDLINE | ID: mdl-35891354
19.
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
J Clin Invest
; 131(12)2021 06 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33945503