Results 191 to 200 of about 7,599 (237)
Some of the next articles are maybe not open access.
Hyperphenylalaninemia with defective transamination
Clinica Chimica Acta, 1983Blood phenylalanine concentrations in a female neonate increased slowly to a level at which dietary phenylalanine restriction became necessary. At this point the patient's urinary aromatic acid excretion profile showed only minimal amounts of phenylpyruvic acid or related aromatic acids.
Karl Blau +2 more
openaire +3 more sources
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.
openaire +3 more sources
Paternal Hyperphenylalaninemia
Pediatrics, 1986In an article published in 1981 that reported on semen studies in four men with phenylketonuria (PKU), it was concluded that semen volumes were significantly reduced. However, the index case should not have been included in the statistical analyses. In the other three cases, the men with PKU had smaller semen volumes than did the four control medical ...
openaire +2 more sources
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
openaire +2 more sources
Maternal hyperphenylalaninemia fetal effects
The Journal of Pediatrics, 1984Thirty-four children of 11 mothers with untreated hyperphenylalaninemia had a pattern of malformation consisting of prenatal and postnatal growth retardation, microcephaly and central nervous system dysfunction, increased incidence of malformations, and a peculiar facial appearance.
Anthony Lipson +6 more
openaire +3 more sources
Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias
Expert Opinion on Drug Metabolism & Toxicology, 2013Phenylketonuria (PKU) is caused by mutation of the enzyme, phenylalanine (Phe) hydroxylase (PAH). The hyperphenylalaninemia characteristic of PKU causes devastating neurological damage if not identified and treated at birth with a Phe-restricted diet.
openaire +3 more sources
Maternal Hyperphenylalaninemia: Rapid achievement of metabolic control predicts overall control throughout pregnancy [PDF]
Molecular Genetics and Metabolism, 2013 Gayane Yenokyan +2 more
exaly +2 more sources
Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese
Clinica Chimica Acta, 2001Hyperphenylalaninemia (HPA) may be caused by either a deficiency in phenylalanine-4-hydroxylase or in tetrahydrobiopterin (BH4), the essential cofactor required for the hydroxylation of aromatic amino acids. The most common forms of BH4 deficiency are 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency (MIM 261640) and dihydropteridine reductase ...
Tze Tze Liu +4 more
openaire +3 more sources
New Developments in Hyperphenylalaninemia [PDF]
Pediatrics, 1980 In recent years it has become apparent that hyperphenylalaninemia in newborn infants may be caused by a variety of defects in the enzyme phenylalanine hydroxylase or by an abnormality in either the enzyme dihydropteridine reductase (DHPR) or the synthesis of dihydrobiopterin (BH2) (Figure).
Edward R.B. McCabe +7 more
openaire +1 more source
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 ...
Paula Klim +5 more
openaire +2 more sources