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The Chemical Detection of Inherited Disorders
A Technique for Semiquantitative Analysis
Genetic Malformation Syndromes Associated
10 other sections not shown
abnormalities activity allopurinol amino acids anomalies associated autosomal behavior Berry biochemical blood phenylalanine brain cells cent child chromatogram chromatography chromosome clinical concentration cystine cystinuria decreased defect deficiency developmental diagnosis diet dietary disorders Donnell Down's syndrome drugs effects elevated enzyme epinephrine evaluation excretion factors Figure filter paper galactose galactosemia genetic Ghadimi glycine growth heterozygotes histidine histidinemia homocystine homocystinuria hospital hyperglycinemia inborn errors increased individuals infants intake laboratory Lofenalac malnutrition maple syrup urine mental retardation metabolism methionine method mongolism months of age mother neonatal newborn nondisjunction normal nutritional Nyhan observed parents patients Pediatrics period phenylalanine phenylalanine levels phenylketonuria plasma amino acids pregnancy present problems protein rats reagent reported reserpine serine serum phenylalanine showed siblings specimen studies symptoms syrup urine disease Table Texas tion transferase treatment trisomy tyrosine uric acid urinary urine urocanic acid weeks X-linked