Detalhe da pesquisa
1.
Growth requirement for methionine in human melanoma-derived cell lines with different levels of MMACHC expression and methylation.
Mol Genet Metab
; 141(1): 108111, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38103461
2.
Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC.
Mol Genet Metab
; 132(3): 155-161, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33487542
3.
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.
Mol Genet Metab
; 130(3): 179-182, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32414565
4.
Congenital disorders of glycosylation and the challenge of rare diseases.
Hum Mutat
; 40(8): 1010-1012, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31374155
5.
Severe hyperhomocysteinemia due to cystathionine ß-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis.
Thromb J
; 12(1): 30, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25516723
6.
High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.
Mol Genet Metab
; 110(1-2): 86-9, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23707710
7.
Congenital Disorders of Glycosylation: A Pipeline to Treatment?
Hum Mutat
; 38(2): 127, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28073185
8.
High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.
Mol Genet Metab
; 107(3): 363-7, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23026888
9.
Evaluation of the performance of multiple immunoassay diagnostic platforms on the National Microbiology Laboratory SARS-CoV-2 National Serology Panel.
J Assoc Med Microbiol Infect Dis Can
; 7(3): 186-195, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36337598
10.
The Importance of Assessment of Function in the Era of In Silico Analysis.
Hum Mutat
; 37(11): 1119, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27737503
11.
Identification of Variants in Alpha-1-Antitrypsin by High Resolution Melting.
J Appl Lab Med
; 6(3): 715-728, 2021 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33331634
12.
The Role of the ThyroSeq v3 Molecular Test in the Surgical Management of Thyroid Nodules in the Canadian Public Health Care Setting.
Thyroid
; 30(9): 1280-1287, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32242511
13.
Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison.
Clin Biochem
; 81: 27-33, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32387440
14.
The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis.
PLoS One
; 14(12): e0223954, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31800572
15.
Transcobalamin in cultured fibroblasts from patients with inborn errors of vitamin B12 metabolism.
Mol Genet Metab
; 95(1-2): 104-6, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18606554
16.
Review of the effect of intravenous lipid emulsion on laboratory analyses.
Clin Toxicol (Phila)
; 54(2): 92-102, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26623668
17.
Methodology for AACT evidence-based recommendations on the use of intravenous lipid emulsion therapy in poisoning.
Clin Toxicol (Phila)
; 53(6): 557-64, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26059735
18.
ApoE phenotype influences plasma ASP in hyperapoB subjects.
Atherosclerosis
; 170(2): 285-91, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14612209
19.
Pilot study examining the frequency of several gene polymorphisms in a morbidly obese population.
Obes Surg
; 12(6): 759-64, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12568179
20.
Utility of measuring serum or red blood cell folate in the era of folate fortification of flour.
Clin Biochem
; 47(7-8): 533-8, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24486651