Results 141 to 150 of about 11,515 (196)
Some of the next articles are maybe not open access.
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
openaire +1 more source
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
openaire +2 more sources
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 ...
H K, Kornreich +3 more
openaire +2 more sources
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
openaire +2 more sources
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.
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
Breastfeeding in phenylketonuria
Acta Paediatrica, 1999Eighty‐three infants with classical phenylketonuria have been born in Norway since 1979. The treatment of these children is centralized at the National Hospital in Oslo. Seventy‐four have been breastfed in combination with a phenylalanine‐free protein substitute.
K, Motzfeldt, R, Lilje, G, Nylander
openaire +2 more sources