Phenylketonuria: Epitome of Human Biochemical Genetics

CURRENT knowledge of variants of phenylketonuria (PKU) originated largely in programs for neonatal screening and treatment. Accordingly, the structure of such programs is relevant to our discussion of the disease. 7,16, 69 , 70 Different processes are required to achieve the goals of screening, foll...

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Veröffentlicht in:	The New England journal of medicine 1980-12, Vol.303 (24), p.1394-1400
Hauptverfasser:	Scriver, Charles R, Clow, Carol L
Format:	Artikel
Sprache:	eng
Schlagworte:	Child, Preschool Children & youth Diagnosis, Differential Diet Female Genetic Carrier Screening Genetic counseling Genetics Genotype & phenotype Homeostasis Humans Infant Infant, Newborn Intelligence Tests Levodopa Metabolism Metabolites Pediatrics Phenotype Phenylalanine - blood Phenylalanine Hydroxylase - metabolism Phenylketonuria Phenylketonurias - diagnosis Phenylketonurias - economics Phenylketonurias - genetics Phenylketonurias - metabolism Phenylketonurias - prevention & control Phenylketonurias - therapy Pregnancy Prevention programs Urine
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