A5049389773- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Mitochondrial Function and Pathology
- Child Nutrition and Feeding Issues
- Neonatal Health and Biochemistry
- Family and Disability Support Research
- Folate and B Vitamins Research
- Delphi Technique in Research
- Autoimmune and Inflammatory Disorders Research
- Cellular transport and secretion
- Amino Acid Enzymes and Metabolism
- Biochemical and Molecular Research
- Muscle metabolism and nutrition
- Diet and metabolism studies
- Trypanosoma species research and implications
- Advanced biosensing and bioanalysis techniques
- ATP Synthase and ATPases Research
- Epilepsy research and treatment
- Childhood Cancer Survivors' Quality of Life
- Calcium signaling and nucleotide metabolism
- Peroxisome Proliferator-Activated Receptors
- Adolescent and Pediatric Healthcare
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Psoriasis: Treatment and Pathogenesis
- Sphingolipid Metabolism and Signaling
University of Alberta
2014-2024
University of Nebraska–Lincoln
2023
Chinese University of Hong Kong
2023
Prince of Wales Hospital
2023
RELX Group (United States)
2023
Alberta Health Services
2014-2022
Stollery Children's Hospital
2021-2022
University of Calgary
2017
University of Alberta Hospital
2002-2013
Alberta Hospital Edmonton
2013
PurposeThe purpose of this study was to enhance understanding lysosomal acid lipase deficiency (LALD) in infancy.MethodsInvestigators reviewed medical records infants with LALD and summarized data for the overall population patients without early growth failure (GF). Kaplan–Meier survival analyses were conducted treated untreated patients.ResultsRecords 35 patients, 26 GF, analyzed. Prominent symptom manifestations included vomiting, diarrhea, steatorrhea. Median age at death 3.7 months;...
Ambroxol hydrochloride is an oral mucolytic drug available over-the-counter for many years as cough medicine. In 2009 it was identified a pharmacological chaperone mutant glucocerebrosidase, albeit in several-fold higher dose. Unfortunately, there have been no pharma-driven clinical trials to establish its use. Thus, real-world observational data are needed on the safety and efficacy of ambroxol patients with Gaucher disease (GD) GBA-Parkinson (GBA-PD). Clinicians treating GD GBA-PD were...
Groundwater uranium (U) concentrations have been measured above the U.S. EPA maximum contaminant level (30 μg/L) in many aquifers, including areas not associated with anthropogenic contamination by milling or mining. In addition to carbonate, nitrate has correlated groundwater two major aquifers. However, date, direct evidence that mobilizes naturally occurring U from aquifer sediments presented. Here, we demonstrate influx of high-nitrate porewater through High Plains alluvial silt bearing...
Eukaryotic initiation factor 2B (eIF2B)-related disorders are heritable white matter with a variable clinical phenotype (including vanishing disease and ovarioleukodystrophy) an equally heterogeneous genotype. We report 9 novel mutations in the EIF2B genes our subject population, increasing number of known to more than 120. Using homology modeling, we have analyzed impact on 5 subunits eIF2B protein. Although recurrent been found at CpG dinucleotides genes, high incidence private or low...
Abstract Objective Argininosuccinate lyase (ASL) is integral to the urea cycle, which enables nitrogen wasting and biosynthesis of arginine, a precursor nitric oxide. Inherited ASL deficiency causes argininosuccinic aciduria, second most common cycle defect an inherited model systemic oxide deficiency. Patients present with developmental delay, epilepsy, movement disorder. Here we aim characterize neurodebilitating comorbidity in aciduria. Methods We conducted retrospective study seven...
Galactosemia type I is an autosomal recessive disorder of galactose metabolism due to galactose-1-phosphate uridyltransferase deficiency, encoded by GALT. To investigate the phenotypes, genotypes and long-term outcomes galactosemia, we performed a retrospective cohort study in our center. All individuals with galactosemia were included. We divided into two groups compare those treated symptomatically (SymX) asymptomatically (AsymX). reviewed electronic patient charts for clinical features,...
Impaired cell cholesterol trafficking in Niemann-Pick type C (NPC) disease results the first known instance of impaired regulation ATP-binding cassette transporter A1 (ABCA1), a lipid mediating rate-limiting step high density lipoprotein (HDL) formation, as cause low plasma HDL-cholesterol humans. We show here that treatment human NPC1(-/-) fibroblasts with liver X receptor (LXR) agonist TO-901317 increases ABCA1 expression and activity fibroblasts, indicated by near normalization efflux...
We report a 36-year-old woman who exhibited progressive optic atrophy at 13 years old, then stroke-like episodes and spastic diplegia in her 20s. Biotinidase deficiency was not readily considered the differential diagnosis, definitive diagnosis made until pathological variants of biotinidase gene (BTD) were found by exome sequencing. Profound confirmed enzyme analysis. Unfortunately, symptoms did resolve or improve with biotin treatment. Biotin therapy is essential for all individuals...
Patients with slightly increased excretion of N-acetylaspartic acid in urine, together macrocephaly, present a dignostic dilemma for Canavan's disease. We describe 13-year-old male patient mild developmental delay, signal intensity the basal ganglia bilaterally, partial cortical blindness, and retinitis pigmentosa. Although clinical course magnetic resonance imaging findings did not resemble typical disease, patient's urine was elevated, 99.90 ± 4.00 μg/mg creatinine, whereas normal control...
A neonate, who was found to have an elevated C3/C2 ratio and minimally propionylcarnitine on newborn screening, subsequently identified as having the rare cblF inborn error of vitamin B12 (cobalamin) metabolism. This disorder is characterized by retention unmetabolized cobalamin in lysosomes such that it not readily available for cellular Although cultured fibroblasts from patient did show expected functional abnormalities cobalamin-dependent enzymes, methylmalonyl-CoA mutase methionine...
Cholangiocellular carcinoma (CCA) of the liver was target more interest, recently, due mainly to its increased incidence and possible association new environmental factors. Somatic mitochondrial DNA (mtDNA) mutations have been found in several cancers. Some these malignancies contain changes mtDNA, which are not or, very rarely, mtDNA databases. In terms evolutionary genetics oncology, data extremely interesting may be considered a sign poor fitness, conduct some way different cellular...
Abstract Background Urea cycle disorders (UCD) and organic acid classically present in the neonatal period. In those who survive, developmental delay is common with continued risk of regression. Liver transplantation improves biochemical abnormality patient survival good. We report neurocognitive functional outcomes post‐transplant for nine UCD, three maple syrup urine disease, one propionic acidemia patient. Methods Thirteen inborn errors metabolism (IEM) patients were individually...
Abstract We report cytogenetic and molecular studies of a de novo, apparently balanced t(1;3)(q32.1;q25.1) identified in 12‐year‐old female (designated DGAP128) with cerebral atrophy, macrocephaly seizures, developmental delay. A combination fluorescence situ hybridization (FISH) Southern blot analysis demonstrated disruption synaptotagmin gene ( SYT14 ) at the 1q32 breakpoint. Expression human brain was confirmed using Northern analysis. Because members family proteins function as sensors...
We describe a patient with variant of the hypoplastic left heart syndrome who died 16 weeks after modified stage 1 Norwood from mitochondrial DNA depletion syndrome.