Results 211 to 220 of about 68,473 (259)
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Hyperphenylalaninemias and Tyrosinemias
Clinics in Perinatology, 1976Discussion of the hyperphenylalaninemias include aspects such as incidence, inheritance, biochemical and clinical features, detection, differential diagnosis, treatment, and genetic counseling. Symptoms and treatment of neonatal tyrosinemia are also elucidated.
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Maternal non-phenylketonuric mild hyperphenylalaninemia
European Journal of Pediatrics, 1996Unlike maternal phenylketonuria (PKU) which produces severe birth defects when untreated during pregnancy, maternal non-PKU mild hyperphenylalaninemia (MHP) has a less severe impact but whether it is benign or may have long-term consequences for offspring has been unclear.
H L, Levy +9 more
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Neonatal Hyperphenylalaninemia: A differential diagnosis
Neuropediatrics, 1970On the basis of clinical data five forms of phenylalaninemia can be distinguished. The most common of these is true phenylketonuria. Phenylalaninemia Type II represents a group of patients with a defect in phenylalanine transaminase and an inability to form significant amounts of phenylpyruvic acid.
J H, Menkes, N A, Holtzman
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Neuropsychological Function in Mild Hyperphenylalaninemia
American Journal on Mental Retardation, 2000Whether specific cognitive deficits related to frontal-lobe dysfunction that have been reported in individuals with phenylketonuria (PKU) are also characteristic of mild hyperphenylalaninemia (MHP) was investigated. Tests of executive function and control tasks not assessing executive function were administered to a group of individuals with MHP and a ...
M L, Smith +5 more
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Hyperphenylalaninemia and the genomic revolution
Molecular Genetics and Metabolism, 2015Political revolutions are marked by the dates of their cataclysms, be theymajor battles or campaigns that shifted momentum: the American Revolution of 1776, the French Revolution of 1789, and the Russian Revolution of 1917. But each of these and every other revolution were preceded bymany smaller but very significant eventswhich culminated in the ...
Farrah, Rajabi, Harvey L, Levy
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MENDELIAN HYPERPHENYLALANINEMIA
Annual Review of Genetics, 1988C R, Scriver, S, Kaufman, S L, Woo
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Phenylketonuria and Hyperphenylalaninemia
1990Untreated phenylketonuria (PKU) causes intellectual deterioration, seizures, various neuropsychiatric symptoms, defects in pigmentation, eczema, and a characteristic “musty” odor. Today, most neonates are screened for hyperphenylalaninemia, which includes PKU. The incidence of PKU is on average one in 10 000 births.
F. Güttler, H. Lou
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Nonphenylketonuric hyperphenylalaninemia.
American journal of diseases of children (1960), 1990Sixteen subjects with nonphenylketonuric hyperphenylalaninemia were followed up during a period of years. Dietary treatment did not seem to influence the outcome, and no relationship between blood phenylalanine and intellectual outcome was demonstrable.
M J, Lang, R, Koch, K, Fishler, R, Baker
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Transient hyperphenylalaninemia
The Journal of Pediatrics, 1968S, Castells +3 more
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