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Incidence of inborn errors of metabolism in British Columbia, 1969-1996

Pediatrics

Jan 5, 2000

D A ApplegarthR B Lowry

PMID: 10617747

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Abstract

To determine how many children with specific types of inborn errors of metabolism are born each year in British Columbia, Canada. This population provides a relatively unique setting for collection of accurate and uniform incidence data because the diagnoses are all made through one lab...read more

Mentioned in this Paper

Metabolic Process, Cellular
Inborn Errors of Metabolism
Galactosemias
Organic acids, Gynecological
Urea Cycle
Amino Acids, I.V. solution additive
Peroxisomal
Birth
Organic acid
Rare Diseases
103
2
Paper Details
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Incidence of inborn errors of metabolism in British Columbia, 1969-1996

Pediatrics

Jan 5, 2000

D A ApplegarthR B Lowry

PMID: 10617747

DOI:

Abstract

To determine how many children with specific types of inborn errors of metabolism are born each year in British Columbia, Canada. This population provides a relatively unique setting for collection of accurate and uniform incidence data because the diagnoses are all made through one lab...read more

Mentioned in this Paper

Metabolic Process, Cellular
Inborn Errors of Metabolism
Galactosemias
Organic acids, Gynecological
Urea Cycle
Amino Acids, I.V. solution additive
Peroxisomal
Birth
Organic acid
Rare Diseases
103
2

Feeds With Similar Papers

Phenylketonuria

Phenylketonuria (PKU) is an inborn error of metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). Discover the latest research on phenylketonuria here.

Electron Transport Chain Biology

The electron transport chain (ETC) facilitates the transfer of electrons through redox while transferring protons across the membrane into the intermembrane space. This feed focuses on the structure and mechanism of the ETC as well as mitochondrial disorders caused by defects in the oxidative phosphorylation pathway.

Related Papers

American Journal of Medical Genetics. Part a

Incidence of the mucopolysaccharidoses in Western Australia

American Journal of Medical Genetics. Part aNovember 11, 2003
John NelsonLawrence Greed
Paper Details
References
  • References
  • Citations143
  • finger pointing at paper

    References currently unavailable

    We're still populating references for this paper, please check back later.
  • References
  • Citations143
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