Results 111 to 120 of about 1,229 (164)
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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
openaire +2 more sources
Phenylketonuria And Maternal Phenylketonuria
2005Abstract Phenylketonuria (PKU) may be the most thoroughly studied inherited metabolic disorder, a disorder in which the consequences can be multigenerational and can have significantly different outcomes. A neonate may be born with PKU or may be an offspring of a woman with maternal phenylketonuria (MPKU).
Melanie Hunt +3 more
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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.
M E, Blaskovics, K N, Shaw
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Phenylketonuria and Maternal Phenylketonuria
2017Abstract This chapter discusses phenylketonuria and maternal phenylketonuria, including the links between phenylalanine embryopathy and maternal phenylketonuria and biochemical abnormalities. Factors to be considered in nutritional evaluation are discussed, including specific nutrients, and components of the diet.
Susan A. Berry +2 more
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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 ...
G Y, Guillet +4 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.
L G, Greeves +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.
L G, Greeves +3 more
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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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The discovery of phenylketonuria
Acta Paediatrica, 1994In 1934, two severely mentally retarded children were examined by Dr Asbjørn Følling. He proved, by classical organic chemistry, that they excreted phenylpyruvic acid in their urine. The substance was also found in the urine of eight additional mentally retarded patients.
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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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