Glycogen storage disease in adults
…, JF Crigler, P Ferreira, JC Haworth… - Annals of internal …, 1994 - acpjournals.org
Objective: To identify complications amenable to prevention in adults with glycogen storage
disease (GSD) types Ia, Ib, and III and to determine the effect of the disease on social factors. …
disease (GSD) types Ia, Ib, and III and to determine the effect of the disease on social factors. …
Effects of tetracyclines on skeletal growth and dentition. A report by the Nutrition Committee of the Canadian Paediatric Society.
…, D Fraser, RB Goldbloom, JC Haworth… - Canadian Medical …, 1968 - ncbi.nlm.nih.gov
Tetracycline Deposition in Bone In 1957, Milch, Rall and Tobie13'14 demon¬ strated the
presence of tetracyclines in bones. Under ultraviolet light, they discovered a par¬ ticular …
presence of tetracyclines in bones. Under ultraviolet light, they discovered a par¬ ticular …
Commentary on breast-feeding and infant formulas, including proposed standards for formulas
…, GB Forbes, RB Goldbloom, JC Haworth… - …, 1976 - publications.aap.org
This statement proposes recommendations toward increasing the practice of breast feeding.
Specific recommendations made for standards of infant formulas as to calorie, protein, fat, …
Specific recommendations made for standards of infant formulas as to calorie, protein, fat, …
A homoallelic Gly317→ Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites
CR Greenberg, CLD Taylor, JC Haworth, LE Seargeant… - Genomics, 1993 - Elsevier
We have discovered a single homoallelic nucleotide substitution as the putative cause of the
perinatal (lethal) form of hypophosphatasia in Canadian Mennonites. Previous linkage and …
perinatal (lethal) form of hypophosphatasia in Canadian Mennonites. Previous linkage and …
Phenotypic variability in glutaric aciduria type I: report of fourteen cases in five Canadian Indian kindreds
JC Haworth, FA Booth, AE Chudley, GW Degroot… - The Journal of …, 1991 - Elsevier
We describe 14 patients with glutaric aciduria type I in five Canadian Indian kindreds living
in Manitoba and northwest Ontario. The patients had marked clinical variability of the disease…
in Manitoba and northwest Ontario. The patients had marked clinical variability of the disease…
Myopathy with hypophosphatasia.
SS Seshia, G Derbyshire, JC Haworth… - Archives of disease in …, 1990 - adc.bmj.com
Three children with hypophosphatasia also had muscle pains, stiffness, and symptoms of
proximal lower limb muscle weakness that occurred early in the disorder and were the …
proximal lower limb muscle weakness that occurred early in the disorder and were the …
Infantile hypophosphatasia: localization within chromosome region 1p36. 1-34 and prenatal diagnosis using linked DNA markers.
…, S Redekopp, JC Haworth… - American journal of …, 1990 - ncbi.nlm.nih.gov
Linkage analysis was performed on data from Manitoba Mennonite families identified by a
proband with infantile hypophosphatasia (HOPS), an autosomal recessive disorder …
proband with infantile hypophosphatasia (HOPS), an autosomal recessive disorder …
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations
…, GR Thompson, LE Seargeant, JC Haworth… - Molecular genetics and …, 2009 - Elsevier
Investigation of seven patients from three families suspected of a fatty acid oxidation defect
showed mean CPT-I enzyme activity of 5.9±4.9 percent of normal controls. The families, two …
showed mean CPT-I enzyme activity of 5.9±4.9 percent of normal controls. The families, two …
Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada
…, LA Dilling, JRG Thompson, JC Haworth… - Molecular genetics and …, 2002 - Elsevier
Glutaric acidemia type 1 (GA1) is overrepresented in the aboriginal population of Island Lake,
Manitoba, and northwestern Ontario who speak the Ojibway-Cree (Oji-Cree) dialect. The …
Manitoba, and northwestern Ontario who speak the Ojibway-Cree (Oji-Cree) dialect. The …
[PDF][PDF] Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency
…, PU Mayerhofer, M Kappler, JC Haworth… - The American Journal of …, 2002 - cell.com
Enteropeptidase (enterokinase [EC3.4.21.9]) is a serine protease of the intestinal brush border
in the proximal small intestine. It activates the pancreatic proenzyme trypsinogen, which, …
in the proximal small intestine. It activates the pancreatic proenzyme trypsinogen, which, …