Found: 19
Select item for more details and to access through your institution.
Meter bias correction is a remedy for inter-meter differences in hypoglycemia recognition rates.
- Published in:
- 2022
- By:
- Publication type:
- Letter to the Editor
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.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2019, v. 57, n. 11, p. 1790, doi. 10.1515/cclm-2018-1337
- By:
- Publication type:
- Article
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1301, doi. 10.1038/ejhg.2014.293
- By:
- Publication type:
- Article
Delays in diagnosing cystic fibrosis: can we find ways to diagnose it earlier?
- Published in:
- 2008
- By:
- Publication type:
- journal article
Prediction of obstetrical risk using maternal serum markers and clinical risk factors.
- Published in:
- Prenatal Diagnosis, 2014, v. 34, n. 2, p. 172, doi. 10.1002/pd.4281
- By:
- Publication type:
- Article
The p.P479L variant in CPT1A is associated with infectious disease in a BC First Nation.
- Published in:
- Paediatrics & Child Health (1205-7088), 2019, v. 24, n. 2, p. e111, doi. 10.1093/pch/pxy106
- By:
- Publication type:
- Article
Diagnosis and management of patients with mitochondrial disease.
- Published in:
- British Columbia Medical Journal, 2011, v. 53, n. 4, p. 177
- By:
- Publication type:
- Article
Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Newborn screening by tandem mass spectrometry: ethical and social issues.
- Published in:
- 2007
- By:
- Publication type:
- journal article
The Brugada ECG Pattern in a Neonate.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2005, v. 16, n. 3, p. 342, doi. 10.1046/j.1540-8167.2005.40607.x
- By:
- Publication type:
- Article
Single Point Mutation in Rabenosyn-5 in a Female with Intractable Seizures and Evidence of Defective Endocytotic Trafficking.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 207, doi. 10.1007/s10545-012-9578-7
- By:
- Publication type:
- Article
Infantile cardioencephalopathy due to a COX15 gene defect: Report and review.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 840, doi. 10.1002/ajmg.a.33881
- By:
- Publication type:
- Article
Three years experience with dried blood spot α-glucosidase screening for Pompe disease in British Columbia, Canada.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
Mining the Gap: Deriving Pregnancy Reference Intervals for Hematology Parameters Using Clinical Datasets.
- Published in:
- Clinical Chemistry, 2023, v. 69, n. 12, p. 1374, doi. 10.1093/clinchem/hvad167
- By:
- Publication type:
- Article
Identification of 6 new mutations in the iduronate sulfatase gene.
- Published in:
- Human Mutation, 1999, v. 13, n. 4, p. 338, doi. 10.1002/(SICI)1098-1004(1999)13:4<338::AID-HUMU15>3.0.CO;2-3
- By:
- Publication type:
- Article
6‐Pyruvoyl‐tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 1, p. 164
- By:
- Publication type:
- Article
Macrocytosis in Mitochondrial DNA Deletion Syndromes.
- Published in:
- Acta Haematologica, 2023, v. 146, n. 3, p. 220, doi. 10.1159/000529311
- By:
- Publication type:
- Article