Results 241 to 250 of about 18,327 (286)
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Agoraphobia in phenylketonuria
Journal of Inherited Metabolic Disease, 1990SummaryWe describe agoraphobia as a complication of phenylketonuria (PKU) in young adults. The five patients have classic PKU and received phenylalanine‐restricted diet only in childhood. Only one has normal intelligence. All but one were also depressed. All were anxious.
S E, Waisbren, H L, Levy
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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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“Hypotyrosinemia” in Phenylketonuria
Molecular Genetics and Metabolism, 2000It has been postulated that the significant incidence of learning disabilities in well-treated patients with phenylketonuria (PKU) may be due, in part, to reduced production of neurotransmitters as a result of deficient tyrosine transport across the neuronal cell membrane.
W B, Hanley +7 more
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Phenylketonuria and the brain.
Molecular Genetics and Metabolism, 2023V. Rovelli, N. Longo
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Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial
Nature Metabolism, 2023Jerry Vockley +17 more
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Archives of Pediatrics & Adolescent Medicine, 1967
A PROGRAM for treatment of children with phenylketonuria (PKU) has been in progress in Cincinnati since 1956. Experience within a closely knit interdisciplinary metabolic team has permitted us to form a comprehensive treatment program which illustrates the intense, constant, well-supervised, and well-monitored care needed for this chronic metabolic ...
H K, Berry +3 more
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A PROGRAM for treatment of children with phenylketonuria (PKU) has been in progress in Cincinnati since 1956. Experience within a closely knit interdisciplinary metabolic team has permitted us to form a comprehensive treatment program which illustrates the intense, constant, well-supervised, and well-monitored care needed for this chronic metabolic ...
H K, Berry +3 more
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Clinical Nutrition ESPEN
Phenylketonuria (PKU) is a genetic metabolic disease resulting from a deficiency in the enzyme phenylalanine hydroxylase. This defect prevents the conversion of phenylalanine to tyrosine, and as a result, the level of phenylalanine in the body increases abnormally.
Saeedeh Talebi, Peyman Eshraghi
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Phenylketonuria (PKU) is a genetic metabolic disease resulting from a deficiency in the enzyme phenylalanine hydroxylase. This defect prevents the conversion of phenylalanine to tyrosine, and as a result, the level of phenylalanine in the body increases abnormally.
Saeedeh Talebi, Peyman Eshraghi
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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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Osteopenia and phenylketonuria
Pediatric Radiology, 1990Trabecular bone mineral content was assessed by quantitative computed tomography in eleven young adults with phenylketonuria who had been treated from early childhood with a diet restricted in natural protein and supplemented with amino acids, minerals and vitamins. There was a significant reduction in the bone mineral content of patients compared with
D J, Carson +3 more
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