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Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools.
TLDR
From demographic data, it is deduced that virtually all the carriers identified in the high-school screening program remembered their status, had their partner tested if they did not already know they were a carrier couple, and took up the options for reproductive counseling/prenatal diagnosis. Expand
Maple syrup urine disease: Interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination
TLDR
A relaxed treatment protocol for patients with maple syrup urine disease may benefit them in quality of life, but it apparently exacts a cost in metabolic control and CNS pathology. Expand
Outcome of early and long-term management of classical maple syrup urine disease.
TLDR
A characteristic EEG pattern resembling the teeth of a comb was observed in three patients during the acute phase in the newborn period but not during long-term treatment, obtained in an ambulatory program with home visiting. Expand
Thiamine-responsive maple-syrup-urine disease.
TLDR
A new form of maple-syrup-urine disease in which the hyperaminoacidaemia is completely corrected by thiamine hydrochloride without recourse to dietary restriction is illustrated. Expand
Phenylketonuria: epitome of human biochemical genetics (second of two parts).
TLDR
The structure of such programs is relevant to the structure of treatment plans for neonatal screening and treatment of phenylketonuria because of their role in the development of knowledge of variants of PKU. Expand
Plasma amino acids: screening, quantitation, and interpretation.
A private view of heterozygosity: eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in Montreal.
TLDR
Findings indicate that Canadians screened in high school: 1) have largely positive attitudes toward genetic screening long after the experience, and 2) are making appropriate use of the test result. Expand
Beta-thalassemia disease prevention: genetic medicine applied.
TLDR
Collective acceptance of the program, appropriate attitudes among carriers, general acceptance and efficacy of fetal diagnosis, and global cost-effectiveness are indicated. Expand
The Hartnup phenotype: Mendelian transport disorder, multifactorial disease.
TLDR
The Hartnup mutation affects an amino acid transport system of intestine and kidney used by a large group of neutral charge alpha-amino acids (six essential and several nonessential) and the associated plasma amino acid value (measured genotype) is polygenic. Expand
Ontogeny modifies manifestations of cystinuria genes: implications for counseling.
TLDR
It is deduce that renal ontogeny amplifies phenotypic expression of cystinuria alleles, thus influencing correct classification of genotype (heterozygote vs homozygote, and type of allele), and implications for counseling and the need for follow-up of infantile cyst inuria. Expand
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