| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A boy with uncertain diagnosis of cystic fibrosis becoming more certain
|
Pisesky, Andrea
|
|
2014
|
47 |
15 |
p. 134-
1 p.
|
artikel
|
| 2 |
A guide to understanding the steroid pathway: New insights and diagnostic implications
|
Greaves, Ronda F.
|
|
2014
|
47 |
15 |
p. 5-15
11 p.
|
artikel
|
| 3 |
Alternations of galectin levels after renal transplantation
|
Tan, Ruoyun
|
|
2014
|
47 |
15 |
p. 83-88
6 p.
|
artikel
|
| 4 |
Alzheimer and platelets: Low-density platelet populations reveal increased serotonin content in Alzheimer type dementia
|
Milovanovic, Micha
|
|
2014
|
47 |
15 |
p. 51-53
3 p.
|
artikel
|
| 5 |
Amoxicillin-associated interference in an HPLC–EC assay for urinary fractionated metanephrines: Potential pitfall in pheochromocytoma biochemical diagnosis
|
Barco, Sebastiano
|
|
2014
|
47 |
15 |
p. 119-121
3 p.
|
artikel
|
| 6 |
A newborn with persistent mild elevations of succinylacetone in bloodspot, plasma and urine, without identified mutations in the FAH gene
|
Waters, Paula J.
|
|
2014
|
47 |
15 |
p. 144-
1 p.
|
artikel
|
| 7 |
Application of Plackett–Burman and Doehlert designs for optimization of selenium analysis in plasma with electrothermal atomic absorption spectrometry
|
El Ati-Hellal, Myriam
|
|
2014
|
47 |
15 |
p. 95-100
6 p.
|
artikel
|
| 8 |
A REDCap database to support longitudinal follow-up of pediatric patients with inborn errors of metabolism
|
Hernandez, Monica
|
|
2014
|
47 |
15 |
p. 138-
1 p.
|
artikel
|
| 9 |
A sensitive and specific UPLC–MS/MS multiplex analysis of urinary glycosaminoglycans for an efficient diagnosis of patients with mucopolysaccharidosis types I, II, III, IV, and VI
|
Lavoie, Pamela
|
|
2014
|
47 |
15 |
p. 141-
1 p.
|
artikel
|
| 10 |
Assessment of barriers to drug adherence in the treatment of urea cycle disorders in North America
|
Shchelochkov, Oleg A.
|
|
2014
|
47 |
15 |
p. 153-
1 p.
|
artikel
|
| 11 |
Biological variation of the osmolality and the osmolal gap
|
Wu, Alan H.B.
|
|
2014
|
47 |
15 |
p. 130-131
2 p.
|
artikel
|
| 12 |
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information—A pilot project
|
Prasad, Chitra
|
|
2014
|
47 |
15 |
p. 148-
1 p.
|
artikel
|
| 13 |
Blood distribution of bortezomib and its kinetics in multiple myeloma patients
|
Osawa, Takashi
|
|
2014
|
47 |
15 |
p. 54-59
6 p.
|
artikel
|
| 14 |
Blood phenylalanine concentrations and dietary phenylalanine tolerance in patients with PKU in response to treatment with sapropterin hydrochloride: A multidimensional approach to determine clinically meaningful outcomes
|
Stockler-Ipsiroglu, Sylvia
|
|
2014
|
47 |
15 |
p. 138-
1 p.
|
artikel
|
| 15 |
Building a pan-Canadian practice-based research network for inherited metabolic diseases: The first two years of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)
|
Potter, Beth K.
|
|
2014
|
47 |
15 |
p. 137-138
2 p.
|
artikel
|
| 16 |
Continuous gene deletion syndrome in two families involving OTC, RPGR and TSPAN7 genes, presenting as ornithine transcarbamylase deficiency
|
Jain-Ghai, Shailly
|
|
2014
|
47 |
15 |
p. 136-137
2 p.
|
artikel
|
| 17 |
Deproteination of whole blood for LC–MS/MS using paramagnetic micro-particles
|
Van den Bossche, Dorien
|
|
2014
|
47 |
15 |
p. 112-115
4 p.
|
artikel
|
| 18 |
Describing the utility of the newborn screening Molecular Assessment Program (MAP) in US Public Health Laboratories
|
Degeberg, Ruhiyyih A.
|
|
2014
|
47 |
15 |
p. 136-
1 p.
|
artikel
|
| 19 |
Development and validation of reversed phase chromatography method for acylcarnitine analysis and its application to second tier newborn screening for inborn organic acid disorders
|
Pany, Faisal Adam
|
|
2014
|
47 |
15 |
p. 139-140
2 p.
|
artikel
|
| 20 |
Development of a rapid clinical TPMT genotyping assay
|
Burchard, Paul R.
|
|
2014
|
47 |
15 |
p. 126-129
4 p.
|
artikel
|
| 21 |
Does registration of the medical science workforce deliver a competent profession?
|
Badrick, Tony
|
|
2014
|
47 |
15 |
p. 1-4
4 p.
|
artikel
|
| 22 |
Editorial Board
|
|
|
2014
|
47 |
15 |
p. IFC-
1 p.
|
artikel
|
| 23 |
Efficacy of a MCT supplementation with galactose restricted diet in an infant with citrin deficiency and a novel variant in the SLC25A13 gene
|
Al Mandhari, Hilal K.
|
|
2014
|
47 |
15 |
p. 139-
1 p.
|
artikel
|
| 24 |
Establishment of hormone reference intervals for infants born <30weeks' gestation
|
Greaves, Ronda F.
|
|
2014
|
47 |
15 |
p. 101-108
8 p.
|
artikel
|
| 25 |
Examining the genotype–phenotype relationship for patients with very-long-chain acyl CoA dehydrogenase deficiency
|
Tingley, Kylie
|
|
2014
|
47 |
15 |
p. 137-
1 p.
|
artikel
|
| 26 |
Exosomal transfer from human renal proximal tubule cells to distal tubule and collecting duct cells
|
Gildea, John J.
|
|
2014
|
47 |
15 |
p. 89-94
6 p.
|
artikel
|
| 27 |
Expansion of the known phenotype for mitochondrial translation elongation factor G1 (EGF1) due to GFM1 mutations
|
Nasr, Enas N.
|
|
2014
|
47 |
15 |
p. 144-
1 p.
|
artikel
|
| 28 |
Fast ibuprofen, ketoprofen and naproxen simultaneous determination in human serum for clinical toxicology by GC–FID
|
Hložek, Tomáš
|
|
2014
|
47 |
15 |
p. 109-111
3 p.
|
artikel
|
| 29 |
Five-year review of newborn screening for congenital hypothyroidism (CH) in Alberta
|
Bamforth, Fiona
|
|
2014
|
47 |
15 |
p. 148-149
2 p.
|
artikel
|
| 30 |
Glucose 6 phosphate dehydrogenase deficiency: An urgent need for newborn screening in India
|
Kapoor, Seema
|
|
2014
|
47 |
15 |
p. 146-
1 p.
|
artikel
|
| 31 |
GM2 gangliosidoses: Developing methods for screening and monitoring the disease
|
Lehotay, Denis C.
|
|
2014
|
47 |
15 |
p. 142-
1 p.
|
artikel
|
| 32 |
Homocysteine analysis in dried blood spots by LC–MS/MS as a second tier test for homocystinuria
|
Chambers, Amy E.
|
|
2014
|
47 |
15 |
p. 140-
1 p.
|
artikel
|
| 33 |
How does learning false positive results through newborn screening for cystic fibrosis influence cascade testing and family planning?
|
Bombard, Yvonne
|
|
2014
|
47 |
15 |
p. 134-135
2 p.
|
artikel
|
| 34 |
Implementing newborn screening policy through a province wide communication campaign
|
Earl, Teresa L.
|
|
2014
|
47 |
15 |
p. 133-
1 p.
|
artikel
|
| 35 |
Incorporating the measurement of EDTA in dried blood spots (DBS) by tandem mass spectrometry in routine newborn screening
|
Fisher, Lawrence J.
|
|
2014
|
47 |
15 |
p. 144-
1 p.
|
artikel
|
| 36 |
In the loop: Primary care providers' role in newborn screening for cystic fibrosis
|
Hayeems, Robin Z.
|
|
2014
|
47 |
15 |
p. 147-148
2 p.
|
artikel
|
| 37 |
Is confirmatory genetic testing of all CF screen positives justified?
|
Chauhan, Nita
|
|
2014
|
47 |
15 |
p. 135-
1 p.
|
artikel
|
| 38 |
Is it time to consider LC–MS/MS measurement of mucopolysaccharides as the first line screening test for Sanfilippo disease?
|
Vallance, Hilary
|
|
2014
|
47 |
15 |
p. 141-142
2 p.
|
artikel
|
| 39 |
Is plasma and urine neutrophil gelatinase-associated lipocalin (NGAL) determination in donors and recipients predictive of renal function after kidney transplantation?
|
Buemi, Antoine
|
|
2014
|
47 |
15 |
p. 68-72
5 p.
|
artikel
|
| 40 |
Liver cell transplantation as a “bridge” therapy for urea cycle disorders: The Calgary experience
|
Khan, Aneal
|
|
2014
|
47 |
15 |
p. 150-151
2 p.
|
artikel
|
| 41 |
Making sense of diagnostic uncertainty after newborn screening for cystic fibrosis
|
Barg, Carolyn J.
|
|
2014
|
47 |
15 |
p. 135-
1 p.
|
artikel
|
| 42 |
Mass or high-risk screening of creatine synthesis and transport disorders, triple H syndrome and OTC deficiency using a multiplex tandem mass spectrometry methodology
|
Auray-Blais, Christiane
|
|
2014
|
47 |
15 |
p. 146-147
2 p.
|
artikel
|
| 43 |
Mass spectrometric determination of purine metabolites in DBS: A novel second tier approach to detecting adenosine deaminase deficiency in the screening for severe combined immunodeficiency
|
McIntosh, Nathan A.
|
|
2014
|
47 |
15 |
p. 150-
1 p.
|
artikel
|
| 44 |
Mesenteric lymphadenopathy and protein-losing enteropathy in Gaucher disease type 3 despite combined enzyme replacement & substrate reduction therapy
|
Mhanni, A.
|
|
2014
|
47 |
15 |
p. 139-
1 p.
|
artikel
|
| 45 |
Metabolic clinic atlas: Organization of care for pediatric metabolic patients in Canada
|
Kronick, Jonathan B.
|
|
2014
|
47 |
15 |
p. 152-
1 p.
|
artikel
|
| 46 |
Metabolomics for discovery of biomarkers for cystic fibrosis: Towards MS-based primary screening methods with improved positive predictive value
|
DiBattista, Alicia
|
|
2014
|
47 |
15 |
p. 143-
1 p.
|
artikel
|
| 47 |
Metabolomics for improved patient stratification in cystic fibrosis: Characterization of the sweat metabolome
|
Macedo, Adriana N.
|
|
2014
|
47 |
15 |
p. 143-
1 p.
|
artikel
|
| 48 |
Methylmalonic aciduria: A common incidental finding in infants undergoing metabolic investigation
|
Rakic, Bojana
|
|
2014
|
47 |
15 |
p. 145-
1 p.
|
artikel
|
| 49 |
Molecular, biochemical and clinical heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency in the Canadian Maritime Provinces
|
Gillis, Jane
|
|
2014
|
47 |
15 |
p. 147-
1 p.
|
artikel
|
| 50 |
Multiplexed separations for rapid confirmatory testing of screen-positive inborn errors of metabolism
|
DiBattista, Alicia
|
|
2014
|
47 |
15 |
p. 150-
1 p.
|
artikel
|
| 51 |
Newborn screening for hemoglobinopathies using HPLC and capillary electrophoresis: Initial findings from the Quebec Newborn Blood Screening Program
|
Berthier, Marie-Thérèse
|
|
2014
|
47 |
15 |
p. 132-
1 p.
|
artikel
|
| 52 |
Newborn Screening Molecular Assessment Program for quality improvement
|
Greene, Christopher N.
|
|
2014
|
47 |
15 |
p. 136-
1 p.
|
artikel
|
| 53 |
Newborn screening policy in Australia
|
Maxwell, Susannah J.
|
|
2014
|
47 |
15 |
p. 146-
1 p.
|
artikel
|
| 54 |
Novel methylated Gb3 isoform biomarker analysis using UPLC–MS/MS for Fabry disease patients
|
Abaoui, Mona
|
|
2014
|
47 |
15 |
p. 140-141
2 p.
|
artikel
|
| 55 |
Optimizing protein precipitation efficiency for assessing the contribution of low molecular weight compounds to serum antioxidant capacity
|
Crowe, Kristi M.
|
|
2014
|
47 |
15 |
p. 116-118
3 p.
|
artikel
|
| 56 |
Outcome of infants with elevated C5OH acylcarnitine: Seven years of newborn screening follow-up at the Calgary Metabolic Clinic
|
Lazier, Joanna
|
|
2014
|
47 |
15 |
p. 148-
1 p.
|
artikel
|
| 57 |
Outcomes in 48 individuals with guanidinoacetatemethyltransferase (GAMT) deficiency and establishment of a Canadian longitudinal database
|
Stockler-Ipsiroglua, Sylvia
|
|
2014
|
47 |
15 |
p. 151-
1 p.
|
artikel
|
| 58 |
Parent attitudes to newborn screening consent practices
|
Nicholls, Stuart G.
|
|
2014
|
47 |
15 |
p. 133-134
2 p.
|
artikel
|
| 59 |
Patient- and family-oriented outcomes for inborn errors of metabolism: A scoping review
|
Khangura, Sara D.
|
|
2014
|
47 |
15 |
p. 149-
1 p.
|
artikel
|
| 60 |
Patient- and family-oriented outcomes for inborn errors of metabolism: The perspective of patient advocacy and support groups
|
Khangura, Sara D.
|
|
2014
|
47 |
15 |
p. 145-
1 p.
|
artikel
|
| 61 |
Profiling of glycosphingolipids for relative organ distribution in a pure strain of Fabry mice
|
Provençal, Philippe
|
|
2014
|
47 |
15 |
p. 141-
1 p.
|
artikel
|
| 62 |
Psychosis: Clinical evaluation for inborn errors of metabolism
|
Trakadis, Yannis
|
|
2014
|
47 |
15 |
p. 152-153
2 p.
|
artikel
|
| 63 |
Quality assurance in the laboratory testing process: Indirect estimation of the reference intervals for platelet parameters in neonates
|
Grecu, Daniela Stefania
|
|
2014
|
47 |
15 |
p. 33-37
5 p.
|
artikel
|
| 64 |
Rapid confirmatory testing of thyroxine status by multi-segment capillary electrophoresis-mass spectrometry with chemical derivatization
|
Shanmuganathan, Meera
|
|
2014
|
47 |
15 |
p. 143-
1 p.
|
artikel
|
| 65 |
Rapid second-tier testing for newborn screening and therapeutic monitoring of maple syrup urine disease
|
Sinclair, Graham
|
|
2014
|
47 |
15 |
p. 149-150
2 p.
|
artikel
|
| 66 |
Redefining normal bone and mineral clinical biochemistry reference intervals for healthy infants in Canada
|
Gallo, Sina
|
|
2014
|
47 |
15 |
p. 27-32
6 p.
|
artikel
|
| 67 |
Relationship between the paraoxonase 1 gene glutamine 192 to arginine polymorphism and gestational diabetes mellitus in Saudi women
|
Al-Hakeem, Malak Mohammed
|
|
2014
|
47 |
15 |
p. 122-125
4 p.
|
artikel
|
| 68 |
Sapropterin is associated with improvements in assessments of executive function in Canadian patients with phenylketonuria
|
Deschênes, Elaine
|
|
2014
|
47 |
15 |
p. 138-139
2 p.
|
artikel
|
| 69 |
Selenium adjuvant therapy in septic patients selected according to Carrico index
|
Kočan, Ladislav
|
|
2014
|
47 |
15 |
p. 44-50
7 p.
|
artikel
|
| 70 |
Serum adhesion molecules as outcome predictors in adult severe sepsis patients requiring mechanical ventilation in the emergency department
|
Kung, Chia-Te
|
|
2014
|
47 |
15 |
p. 38-43
6 p.
|
artikel
|
| 71 |
Severe combined immunodeficiency (SCID) screening in Ontario — Methodology and workflow used by Newborn Screening Ontario (NSO)
|
Yeh, Ed
|
|
2014
|
47 |
15 |
p. 142-
1 p.
|
artikel
|
| 72 |
Simultaneous LC–MS/MS determination of sialic acid, pipecolic acid and piperideine-6-carboxylate in biological fluids, for diagnosis and monitoring of inherited metabolic disorders
|
Waters, Paula J.
|
|
2014
|
47 |
15 |
p. 142-
1 p.
|
artikel
|
| 73 |
The development and validation of a turbulent flow-liquid chromatography–tandem mass spectrometric method for the simultaneous quantification of citalopram, sertraline, bupropion and hydroxybupropion in serum
|
Petrides, Athena K.
|
|
2014
|
47 |
15 |
p. 73-79
7 p.
|
artikel
|
| 74 |
The development of a genetic newborn screening assay for permanent hearing loss using blood spots — A collaboration between Newborn Screening Ontario (NSO) and the Infant Hearing Program (IHP)
|
Yeh, E.
|
|
2014
|
47 |
15 |
p. 149-
1 p.
|
artikel
|
| 75 |
The epidemiology and health service impact of medium-chain acyl-CoA dehydrogenase deficiency among affected children and those with false positive newborn screening results in Ontario
|
Karaceper, Maria D.
|
|
2014
|
47 |
15 |
p. 132-133
2 p.
|
artikel
|
| 76 |
The experiences of Libyan physicians with congenital disorders and their attitudes towards newborn screening
|
Shickh, Salma A.
|
|
2014
|
47 |
15 |
p. 134-
1 p.
|
artikel
|
| 77 |
The extended nationwide newborn screening program in the state of Qatar (in cooperation with the Neonatal Screening Centre in University Children Hospital Heidelberg-Germany) — 10year outcome
|
Abdoh, Ghassan M.
|
|
2014
|
47 |
15 |
p. 146-
1 p.
|
artikel
|
| 78 |
The importance of challenging phenylalanine (Phe) tolerance in patients with phenylketonuria (PKU)
|
Langley, Erica L.
|
|
2014
|
47 |
15 |
p. 151-152
2 p.
|
artikel
|
| 79 |
Towards a clinical trial of lentivirus-mediated gene therapy for Fabry disease: In vitro patient cell mobilization and transduction outcomes
|
Rupar, Tony
|
|
2014
|
47 |
15 |
p. 151-
1 p.
|
artikel
|
| 80 |
Treatment-related signs and symptoms among patients with urea cycle disorders (UCDs) during treatment with sodium phenylbutyrate and glycerol phenylbutyrate
|
Nagamani, Sandesh C.
|
|
2014
|
47 |
15 |
p. 153-
1 p.
|
artikel
|
| 81 |
Two new unrelated cases of pyrroline-5-carboxylate synthase — New founder effect?
|
Trakadis, Y.
|
|
2014
|
47 |
15 |
p. 145-
1 p.
|
artikel
|
| 82 |
Unsatisfactory dried blood spot sample rates: Does audit and feedback drive quality improvement?
|
Dougan, Shelley
|
|
2014
|
47 |
15 |
p. 133-
1 p.
|
artikel
|
| 83 |
UPLC-based metabonomic applications for discovering biomarkers of diseases in clinical chemistry
|
Zhao, Ying-Yong
|
|
2014
|
47 |
15 |
p. 16-26
11 p.
|
artikel
|
| 84 |
UPLC MS/MS quantitation of AQC-derivatized amino acids for detection of inborn errors of metabolism
|
Seargeant, Lorne E.
|
|
2014
|
47 |
15 |
p. 140-
1 p.
|
artikel
|
| 85 |
Use of synthetic urine as a matrix substitute for standard and quality control materials in the clinical assessment of iodine by inductively coupled plasma mass spectrometry
|
Haglock-Adler, Carrie J.
|
|
2014
|
47 |
15 |
p. 80-82
3 p.
|
artikel
|
| 86 |
Variants in genes encoding pyrophosphate metabolizing enzymes are associated with Pseudoxanthoma elasticum
|
Dabisch-Ruthe, Mareike
|
|
2014
|
47 |
15 |
p. 60-67
8 p.
|
artikel
|
| 87 |
We are the 1%: Newborn screening for cystic fibrosis and true positive cases from category C screening
|
Tam, Karen
|
|
2014
|
47 |
15 |
p. 135-136
2 p.
|
artikel
|
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