Results 241 to 250 of about 30,878 (268)
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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.
Susan E. Waisbren, Harvey L. Levy
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2006
Abstract Penny Urick is a 22-year-old G1P0 (one pregnancy, no births) woman who was seen at the family practice clinic for routine prenatal care during her first pregnancy. Mrs. Urick described herself as “generally healthy.”At the time of her visit, she stated that she took no medications and had no known medical allergies; however, her
William L Anderson, Steven M Mitchell
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Abstract Penny Urick is a 22-year-old G1P0 (one pregnancy, no births) woman who was seen at the family practice clinic for routine prenatal care during her first pregnancy. Mrs. Urick described herself as “generally healthy.”At the time of her visit, she stated that she took no medications and had no known medical allergies; however, her
William L Anderson, Steven M Mitchell
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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.
Joe T.R. Clarke +7 more
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Acta Paediatrica, 1997
Parent or self‐reported history of fractures in a group of patients aged from 0.3 to 33.6 years on dietary treatment for phenylketonuria was studied by means of a questionnaire. Twenty‐one of 85 patients had a history of fracture compared with 18/98 sibling controls.
Greeves Lg +3 more
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Parent or self‐reported history of fractures in a group of patients aged from 0.3 to 33.6 years on dietary treatment for phenylketonuria was studied by means of a questionnaire. Twenty‐one of 85 patients had a history of fracture compared with 18/98 sibling controls.
Greeves Lg +3 more
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Phenylketonuria and Scleroderma
Archives of Dermatology, 1978Two mentally retarded siblings, one with severe segmental scleroderma and the other with atrophoderma of Pasini and Pierini, were found at the ages of 6 and 10 years to have phenylketonuria (PKU). The belief that a common pathomechanism exists between morphea and atrophoderma of Pasini and Pierini is supported by the case of the two siblings. Disorders
Daniel Beaff +4 more
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Molecular Genetics and Metabolism, 2011
The same basic principles are used to deliver dietary treatment in PKU that was developed sixty years ago. Dietary treatment is undoubtedly very successful, but it has gradually evolved and been guided commonly by individual experience and expert opinion only.
François Feillet +3 more
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The same basic principles are used to deliver dietary treatment in PKU that was developed sixty years ago. Dietary treatment is undoubtedly very successful, but it has gradually evolved and been guided commonly by individual experience and expert opinion only.
François Feillet +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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Pseudoscleroderma and Phenylketonuria
International Journal of Dermatology, 1983ABSTRACT:An infant girl with partial phenylketonuria developed pseudoscleroderma. After six years of follow up, both the neurologic and cutaneous conditions improved under a phenylalanine restricted diet. The probable roles of phenylalanine, tryptophan, tyrosine, and their metabolites may cause both conditions through possible transient ...
Jean Maleville +4 more
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