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. …

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 …

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, …

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 …

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…

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 …

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 …

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 …

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 …

[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, …