Results 221 to 230 of about 31,184 (250)
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Molecular Genetics and Metabolism, 2011
The same basic principles are used to deliver dietary treatment in PKU that was developed sixty years ago. Dietary treatment is undoubtedly very successful, but it has gradually evolved and been guided commonly by individual experience and expert opinion only.
François Feillet +3 more
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The same basic principles are used to deliver dietary treatment in PKU that was developed sixty years ago. Dietary treatment is undoubtedly very successful, but it has gradually evolved and been guided commonly by individual experience and expert opinion only.
François Feillet +3 more
openaire +3 more sources
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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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: a review of current and future treatments.
Translational Pediatrics, 2015Phenylketonuria (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
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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 ...
Jean Maleville +4 more
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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 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 ...
openaire +3 more sources