Results 211 to 220 of about 31,184 (250)
Some of the next articles are maybe not open access.
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
openaire +3 more sources
A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.
Pediatrics, 1963A new method is described for rapid and economical screening of large numbers of hospital nursery infants for elevation in blood phenylalanine associated with phenylketonuria. Results are presented for 682 infants, 96% of whom were 4 days of age. None of
R. Guthrie, Ada Susi
semanticscholar +1 more source
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
openaire +1 more source
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
openaire +1 more source
Phenylketonuria and the brain.
Molecular Genetics and Metabolism, 2023V. Rovelli, N. Longo
semanticscholar +1 more source
Pegvaliase: a novel treatment option for adults with phenylketonuria
Current Medical Research and Opinion, 2018Objective: In May 2018, the US Food and Drug Administration approved pegvaliase-pqpz (Palynziq*), the first enzyme substitution therapy for the treatment of phenylketonuria (PKU).
K. Mahan, Mona A. Gandhi, Sridhar Anand
semanticscholar +1 more source
“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
openaire +3 more sources
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
openaire +3 more sources
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
openaire +3 more sources
Stress and quality of life in parents of children with phenylketonuria.
Journal of Child and Adolescent Psychiatric Nursing, 2018BACKGROUND Phenylketonuria is a hereditary disease caused by the lack or deficiency of phenylalanine hydroxylase enzyme activity. Parents of children with phenylketonuria undergo significant stress during their childcare years.
F. Irannejad +2 more
semanticscholar +1 more source
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
openaire +3 more sources