The major pathological findings in 23 patients with hereditary tyrosinemia type I seen at the
Hôpital Sainte-Justine over a 23-year period are reviewed in combination with findings in …

We describe a stratagem for identifying new mutations in the galactose-1-phosphate uridyl
transferase (GALT) gene. GALT enzyme activity and isoforms were defined in erythrocytes …

The human cDNA and gene for galactose-1-phosphate uridyl transferase (GALT) have been
cloned and sequenced. A prevalent mutation (Q188R) is known to cause classic …

Between January 24, 1984, and December 31, 1988, 29 screening programs for biotinidase
deficiency in newborns were established in 12 countries, and 4 396 834 newborns were …

Classical galactosemia (G/G) is caused by the lack of galactose-1-phosphate
uridyltransferase (GALT) activity. A more common clinical variant, Duarte/Classical (D/G) …

OBJECTIVE: To compare the prevalence of hereditary metabolic diseases in the native and
non-native populations of Manitoba and northwestern Ontario. DESIGN: Retrospective …

Biotinidase deficiency is an inborn error of metabolism that is transmitted as an autosomal
recessive disorder. Symptoms include hearing loss, ataxia, blindness, mental retardation …

Costs of screening a series of 18, 152 newborn males for Duchenne muscular dystrophy
(DMD) in Canada were evaluated. The final aim of neonatal screening for DMD is the …

Neonatal screening is a widely accepted, cost-effective method for early detection of a
variety of inborn errors of metabolism. This early detection improves the outcome in affected …

Neonatal screening is a widely accepted, cost-effective method for early detection of various
inborn errors of metabolism. This series of three articles examines different aspects of …