• Publications
  • Influence
Progressive mental regression in siblings with Morquio disease Type B (mucopolysaccharidosis IV B)
TLDR
Study of the residual fibroblast β‐galactosidase activity towards 4‐methylumbelliferyl‐β‐D‐fucoside indicated that the mutation resembles that in typical Morquio B disease (increased Km and similar pH maximum) rather than that in GM1‐gangliosidosis. Expand
Contact anaphylaxis: A review
TLDR
This report reviews reported agents that have been recognized as causing such systemic reactions from topical exposure as immunologic or nonimmunologic contact urticaria and anaphylaxis. Expand
An Assessment of Genetic Counseling Services for Individuals with Multiple Sclerosis
TLDR
It is suggested that genetic counseling is effective in increasing patients’ knowledge of the etiology of MS and is viewed by patients as a useful service and may be beneficial for patients with MS seen in other centers. Expand
Homozygous TRAP1 sequence variant in a child with Leigh syndrome and normal kidneys.
TLDR
TRAP1 sequence variants in five families with congenital abnormalities of the kidney and urinary tract (CAKUT) were described, with three having additional anomalies consistent with the VACTERL spectrum, among these cases, two siblings with CAKUT and an unrelated individual were homozygous for the R469H variant. Expand
Contiguous Gene Deletion of Chromosome Xp in Three FamiliesEncompassing OTC, RPGR and TSPAN7 Genes
TLDR
Three families with different contiguous gene deletions on chromosome Xp are presented, highlighting the variable phenotype in manifesting OTCD female carriers and complex issues surrounding the option of liver transplantation when multiple other genetic factors play a role. Expand
Interpretation and management of genetic test results by Canadian family physicians: a multiple choice survey of performance.
TLDR
A cross-sectional survey was distributed to Canadian FPs and GCs in 2019 and found that FPs performed less well than GCs on each survey question and scenario. Expand
What does mainstream media say about enzyme replacement therapies?
TLDR
Incomplete or inaccurate reporting about efficacy and safety may influence families that appear to be candidates for ERT, and poor reporting of medical information may influence the social pressures placed on the government and affect funding approval for these drugs. Expand