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1.
Interference of ketone bodies on laboratory creatinine measurement in children with DKA: a call for change in testing practices.
Pediatr Nephrol
; 37(6): 1347-1353, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-34757480
2.
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
3.
Investigating oxythiamine levels in children undergoing kidney transplantation and the risk of immediate post-operative metabolic and hemodynamic decompensation.
Pediatr Nephrol
; 36(4): 987-993, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33067673
4.
Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual disability.
Paediatr Child Health
; 26(6): 344-348, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-34676012
5.
Clinical Impact and Cost Efficacy of Newborn Screening for Congenital Adrenal Hyperplasia.
J Pediatr
; 220: 101-108.e2, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32044100
6.
A Pedagogical Approach to Integrative Neuromuscular Training to Improve Motor Competence in Children: A Randomized Controlled Trail.
J Strength Cond Res
; 34(11): 3078-3085, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-33105357
7.
Atypical cerebral palsy: genomics analysis enables precision medicine.
Genet Med
; 21(7): 1621-1628, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30542205
8.
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
9.
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
10.
Acute Shoshin beriberi syndrome immediately post-kidney transplant with rapid recovery after thiamine administration.
Pediatr Transplant
; 23(5): e13493, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31124207
11.
The p.P479L variant in CPT1A is associated with infectious disease in a BC First Nation.
Paediatr Child Health
; 24(2): e111-e115, 2019 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-30996616
12.
Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis.
Neuropediatrics
; 49(6): 369-372, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30045381
13.
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
14.
A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.
Am J Med Genet A
; 173(3): 712-715, 2017 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-28211985
15.
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
16.
A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.
Mol Genet Metab
; 118(3): 173-177, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27233226
17.
Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann-Pick Type C disease among intellectually disabled using discrete event simulation.
Mol Genet Metab
; 114(2): 226-32, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25095726
18.
Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid ß-oxidation disorders in adult patients with rhabdomyolysis.
J Inherit Metab Dis
; 37(2): 207-13, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23296367
19.
Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing.
Mol Genet Metab
; 110(4): 465-71, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24140398
20.
Validity and Reliability of the V-Cut Dribbling Test in Young Basketball Players.
Int J Sports Physiol Perform
; 18(6): 660-666, 2023 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37185455