METHOD Conduct all steps at room temperature unless otherwise stated. 1. Collect 5 ml
ofblood in a vacutainer tube (Becton Dickinson) containing EDTA and mix.

The classification of genetic disease into chromosomal, monogenic and multifactorial
categories is an oversimplification. Phenylketonuria (PKU) is a classic ‘monogenic' autosomal …

… to it has been called an epitome of human biochemical genetics [Scriver and Clow, 1980a,
1980b]. It … Rosenblatt D, Scriver CR. 1968. Heterogeneity in genetic control of phenylalanine …

A new dominant mutation in the laboratory mouse, hypophosphatemia (gene symbol Hyp),
has been identified. The Hyp gene is located on the X-chromosome and maps at the distal …

… and Scriver and Kaufman 10 emphasize that all neonates with persistent HPA must be
screened for the BH4 deficiencies. Prenatal diagnosis is possible for all forms of BH4 deficiencies…

Phenylketonuria (PKU), with its associated hyperphenylalaninemia (HPA) and mental
retardation, is a classic genetic disease and the first to have an identified chemical cause of …

This statement proposes recommendations toward increasing the practice of breast feeding.
Specific recommendations made for standards of infant formulas as to calorie, protein, fat, …

We analyzed correlations between mutant genotypes at the human phenylalanine
hydroxylase locus (gene symbol PAH) and the corresponding hyperphenylalaninemia (HPA) …

Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating
consequences. Reference laboratory data are scattered and clinical descriptions of rare …

The population of Quebec, Canada (7.3 million) contains ∼6 million French Canadians; they
are the descendants of ∼8500 permanent French settlers who colonized Nouvelle France …