Results 121 to 130 of about 1,229 (164)
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Clinical Pediatrics, 1962
1. An infant with phenylketonuria who has never had a positive urine FeCl3 test is reported. 2. Some of the problems concerning the diagnosis of phenylketonuria are discussed.
C C, MABRY, T L, NELSON, F A, HORNER
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1. An infant with phenylketonuria who has never had a positive urine FeCl3 test is reported. 2. Some of the problems concerning the diagnosis of phenylketonuria are discussed.
C C, MABRY, T L, NELSON, F A, HORNER
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Developmental Medicine & Child Neurology, 1967
SUMMARYSince the introduction of widespread screening programs for phenylketonuria (PKU) in the past few years, increasing doubt has arisen concerning the diagnosis of this disorder based on raised blood‐phenylalanine levels. Discovery of a significant number of infants with intermediate values (4–20 mg.
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SUMMARYSince the introduction of widespread screening programs for phenylketonuria (PKU) in the past few years, increasing doubt has arisen concerning the diagnosis of this disorder based on raised blood‐phenylalanine levels. Discovery of a significant number of infants with intermediate values (4–20 mg.
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The Indian Journal of Pediatrics, 1982
A Hindu family of nonconsanguineous parentage having four out of six sibs affected with phenylketonuria has been described. All the four had fair color, brown eyes and hairs and mental retardation. Three of them had seizures. In two epileptiform electroencephalogram was seen. All the four had positive biochemical tests for phenylketonuria in urine.
B N, Gaind +3 more
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A Hindu family of nonconsanguineous parentage having four out of six sibs affected with phenylketonuria has been described. All the four had fair color, brown eyes and hairs and mental retardation. Three of them had seizures. In two epileptiform electroencephalogram was seen. All the four had positive biochemical tests for phenylketonuria in urine.
B N, Gaind +3 more
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Developmental Medicine & Child Neurology, 1961
SUMMARYPhenylketonuria causes grave intellectual and neurological deterioration unless treated with a diet low in phenylalanine. To be fully effective this treatment must be started within a few weeks of birth, before any clinical signs appear. The urine of all babies should be tested for phenylpyruvic acid so that, in affected infants, treatment can ...
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SUMMARYPhenylketonuria causes grave intellectual and neurological deterioration unless treated with a diet low in phenylalanine. To be fully effective this treatment must be started within a few weeks of birth, before any clinical signs appear. The urine of all babies should be tested for phenylpyruvic acid so that, in affected infants, treatment can ...
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Phenylketonuria and maternal phenylketonuria.
Breastfeeding review : professional publication of the Nursing Mothers' Association of Australia, 2001Phenylketonuria is a genetic disease affecting 1:10,000 to 14,000 live births. In NSW there is an average of nine cases diagnosed each year (Dietitians Working Party 1996). This paper discusses the management of phenylketonuria, and in particular the value of breastfeeding, complemented with a low phenylalanine infant formula, in facilitating easier ...
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Pediatrics In Review, 1986
Phenylketonuria (PKU) has been aptly described as the "epitome of human biochemical genetics." In so distinguishing PKU among the many metabolic disorders now known, Scriver and Clow identified several categories in which this inborn error of metabolism is singularly prominent. First and foremost, PKU represents a fusion of effort between public health
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Phenylketonuria (PKU) has been aptly described as the "epitome of human biochemical genetics." In so distinguishing PKU among the many metabolic disorders now known, Scriver and Clow identified several categories in which this inborn error of metabolism is singularly prominent. First and foremost, PKU represents a fusion of effort between public health
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The American Journal of Medicine, 2004
Newborn screening for phenylketonuria began 35 to 40 years ago in most industrialized countries. Because of this initiative, which resulted in early institution of phenylalanine-restricted diets, there are now many young adults with this disease who have normal or near-normal intellectual function.
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Newborn screening for phenylketonuria began 35 to 40 years ago in most industrialized countries. Because of this initiative, which resulted in early institution of phenylalanine-restricted diets, there are now many young adults with this disease who have normal or near-normal intellectual function.
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