Results 161 to 170 of about 7,389 (184)
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“Hypotyrosinemia” in Phenylketonuria

Molecular Genetics and Metabolism, 2000
It 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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Tests for Phenylketonuria

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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Phenylketonuria

Archives of Pediatrics & Adolescent Medicine, 1957
S W, WRIGHT, G, TARJAN
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Pseudoscleroderma and Phenylketonuria

International Journal of Dermatology, 1983
ABSTRACT: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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Phenylketonuria

Disease-a-Month, 1966
H K, Berry, B S, Sutherland, B, Umbarger
openaire   +3 more sources

PHENYLKETONURIA

Nutrition Reviews, 2009
R. Hamish McAllister-Williams   +199 more
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Phenylketonuria and Nutrition

Postgraduate Medicine, 1964
The cause of phenylpyruvic oligophrenia, a hereditary mental disease, is now largely understood.Practical, inexpensive and reliable methods of screening detect the presence of the disease.The development of phenylpyruvic oligophrenia and its pathologic results can be prevented by placing the newborn infant on a special diet.This disease can and should ...
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The discovery of phenylketonuria

Acta Paediatrica, 1994
In 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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Phenylketonuria

Annual Review of Nutrition, 1987
R, Koch, E, Wenz
openaire   +2 more sources

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