Detalhe da pesquisa
1.
The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.
Mol Genet Metab;
142(1): 108345, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38387306
2.
Deficiency of ASGR1 in pigs recapitulates reduced risk factor for cardiovascular disease in humans.
PLoS Genet;
17(11): e1009891, 2021 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34762653
3.
The multiple facets of acetyl-CoA metabolism: Energetics, biosynthesis, regulation, acylation and inborn errors.
Mol Genet Metab;
138(1): 106966, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36528988
4.
Urolithin A exerts antiobesity effects through enhancing adipose tissue thermogenesis in mice.
PLoS Biol;
18(3): e3000688, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32218572
5.
TUFM variants lead to white matter abnormalities mimicking multiple sclerosis.
Eur J Neurol;
30(10): 3400-3403, 2023 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37433570
6.
Cardiac-specific deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase in mice causes cardiomyopathy and a distinct pattern of acyl-coenzyme A-related biomarkers.
Mol Genet Metab;
137(3): 257-264, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36228350
7.
Propionic acidemia in mice: Liver acyl-CoA levels and clinical course.
Mol Genet Metab;
135(1): 47-55, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34896004
8.
Deficiency of 3-hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting.
J Inherit Metab Dis;
43(5): 960-968, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32279332
9.
Adipose tissue deficiency of hormone-sensitive lipase causes fatty liver in mice.
PLoS Genet;
13(12): e1007110, 2017 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29232702
10.
Epistatic interaction between the lipase-encoding genes Pnpla2 and Lipe causes liposarcoma in mice.
PLoS Genet;
13(5): e1006716, 2017 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28459858
11.
Hereditary diseases of coenzyme A thioester metabolism.
Biochem Soc Trans;
47(1): 149-155, 2019 02 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30626707
12.
Inborn errors of mitochondrial acyl-coenzyme a metabolism: acyl-CoA biology meets the clinic.
Mol Genet Metab;
128(1-2): 30-44, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31186158
13.
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
J Inherit Metab Dis;
42(1): 107-116, 2019 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30740739
14.
Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.
Haemophilia;
29(3): 921-924, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36897533
15.
Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.
J Med Genet;
54(4): 241-247, 2017 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27876694
16.
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
Mol Genet Metab;
121(3): 206-215, 2017 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28583327
17.
Premature Ovarian Failure in French Canadian Leigh Syndrome.
J Pediatr;
184: 227-229.e1, 2017 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28284481
18.
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
J Med Genet;
53(6): 403-18, 2016 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26908836
19.
Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine.
Adv Exp Med Biol;
959: 67-73, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28755184
20.
The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec.
Adv Exp Med Biol;
959: 75-83, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28755185