Results 191 to 200 of about 7,483 (223)
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Hypophosphatasia with phenylketonuria
Zeitschrift f�r Kinderheilkunde, 1974Hypophosphatasia and phenylketonuria have been encountered in a 9-month-old male infant as two independent inborn errors of metabolism. The pathognomonic triad of bony demineralization, subnormal alkaline phosphatase levels and increased excretion of phosphoethanolamine established the diagnosis of hypophosphatasia.
Kenneth N. F. Shaw, Milan E. Blaskovics
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Phenylketonuria and scleroderma
The Journal of Pediatrics, 1968A diagnosis of scleroderma and phenylketonuria was made in an 18-month-old girl. This is the third recorded incidence of the association of these two disorders. Following institution of a low phenylalanine diet, there was softening of the severe sclerodermatous lesions on the trunk and lower extremities, although new lesions have slowly developed on ...
Virgil Hanson +3 more
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American Journal of Perinatology, 1985
Many young women who were diagnosed as having phenylketonuria (PKU) during routine neonatal screening and effectively treated during childhood are now of childbearing age. Recent reports suggest that maternal dietary therapy instituted before conception may improve the likelihood of a successful pregnancy and normal offspring.
Rebecca S. Roberts +4 more
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Many young women who were diagnosed as having phenylketonuria (PKU) during routine neonatal screening and effectively treated during childhood are now of childbearing age. Recent reports suggest that maternal dietary therapy instituted before conception may improve the likelihood of a successful pregnancy and normal offspring.
Rebecca S. Roberts +4 more
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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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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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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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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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