Results 231 to 240 of about 26,955 (257)
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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
openaire   +3 more sources

Phenylketonuria: a review of current and future treatments.

Translational Pediatrics, 2015
Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism caused by a deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH). If left untreated, the main clinical feature is intellectual disability.
Naz Al Hafid, J. Christodoulou
semanticscholar   +1 more source

Phenylketonuria

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

Development of a synthetic live bacterial therapeutic for the human metabolic disease phenylketonuria

Nature Biotechnology, 2018
Vincent M. Isabella   +16 more
semanticscholar   +1 more source

PHENYLKETONURIA

Nutrition Reviews, 2009
R. Hamish McAllister-Williams   +199 more
openaire   +3 more sources

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.
openaire   +3 more sources

Phenylketonuria

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

Phenylketonuria

AJN, American Journal of Nursing, 1975
P, Justice, G F, Smith
openaire   +2 more sources

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