Phenylketonuria: a family study
Crosby, P.F.; Navarro, A.; Matos, M.L.
Boletin de la Asociacion Medica de Puerto Rico 61(4): 133-137
1969
ISSN/ISBN: 0004-4849 PMID: 5255738 Document Number: 5619
Routine urine screening procedures uncovered a case of phenylketonuria in a severely retarded twelveyear old girl. This diagnosis was confirmed by a high fasting serum phenylalanine level. The family historY included a severely retarded blue-eyed, blonde girl who had died at age of 2 years. The parents and three of the four remaining children were heterozygous for phenylketonuria.
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