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1.
Maternal vitamin B12 status in early pregnancy and its association with birth outcomes in Canadian mother-newborn Dyads.
Br J Nutr
; 126(12): 1823-1831, 2021 12 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-33602347
2.
Serum Betaine and Dimethylglycine Are Higher in South Asian Compared with European Pregnant Women in Canada, with Betaine and Total Homocysteine Inversely Associated in Early and Midpregnancy, Independent of Ethnicity.
J Nutr
; 149(12): 2145-2155, 2019 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31504713
3.
Reference intervals for serum total vitamin B12 and holotranscobalamin concentrations and their change points with methylmalonic acid concentration to assess vitamin B12 status during early and mid-pregnancy.
Clin Chem Lab Med
; 57(11): 1790-1798, 2019 Oct 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-31085739
4.
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
Am J Hum Genet
; 94(3): 453-61, 2014 Mar 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-24530203
5.
Pregnant women of South Asian ethnicity in Canada have substantially lower vitamin B12 status compared with pregnant women of European ethnicity.
Br J Nutr
; 118(6): 454-462, 2017 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-28920568
6.
Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia.
Can J Neurol Sci
; 39(4): 520-4, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22728862
7.
Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
Am J Med Genet A
; 155A(4): 840-4, 2011 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21412973
8.
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.
Mol Genet Metab
; 96(4): 201-7, 2009 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-19217814
9.
A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations.
Mitochondrion
; 46: 298-301, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30114489
10.
Delays in diagnosing cystic fibrosis: can we find ways to diagnose it earlier?
Can Fam Physician
; 54(6): 877-83, 2008 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-18556497
11.
Reference interval of methylmalonic acid concentrations in dried blood spots of healthy, term newborns to facilitate neonatal screening of vitamin B12 deficiency.
Clin Biochem
; 49(13-14): 973-8, 2016 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-27040901
12.
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.
Clin Biochem
; 36(2): 145-9, 2003 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-12633764
13.
Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations.
Pediatrics
; 130(5): e1162-9, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-23090344
14.
Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test.
Clin J Am Soc Nephrol
; 3(1): 139-45, 2008 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-18003767
15.
A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy.
Mol Genet Metab
; 89(1-2): 129-33, 2006.
Artículo
en Inglés
| MEDLINE | ID: mdl-16765077
16.
Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?
Mol Genet Metab
; 86 Suppl 1: S148-52, 2005 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-16182582
17.
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.
Ann Neurol
; 58(1): 164-7, 2005 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-15984017
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