Results 121 to 130 of about 69,044 (178)

PERSISTENT HYPERPHENYLALANINEMIA

Acta Paediatrica, International Journal of Paediatrics, 1972
F Güttler
exaly   +3 more sources

Hyperphenylalaninemia and birth weight

Annales de Génétique, 2002
Hyperphenylalaninemias (HPAs) are due to autosomal recessive inherited deficiency of phenylalanine hydroxylase and include three different biochemical and clinical phenotypes: classic phenylketonuria, mild phenylketonuria and persistent HPA. Recently the relationship between birth weight and HPA has been investigated.
Sebastiano, Bianca, Concetta, Meli, Barbara, Barrano, Florindo, Mollica   +3 more
openaire   +2 more sources

Paternal Hyperphenylalaninemia

Pediatrics, 1986
In 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

Hyperphenylalaninemia and the genomic revolution

Molecular Genetics and Metabolism, 2015
Political 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
openaire   +2 more sources

Origins of Hyperphenylalaninemia in Israel

European Journal of Human Genetics, 1994
Mutations and polymorphisms at the phenylalanine hydroxylase (PAH) gene were used to study the genetic diversity of the Jewish and Palestinian Arab populations in Israel. PAH mutations are responsible for a large variety of hyperphenylalaninemias (HPAs), ranging from the autosomal recessive disease phenylketonuria to various degrees of nonclinical HPA.
S, Kleiman, S, Avigad, L, Vanagaite, A, Shmuelevitz, M, David, R C, Eisensmith, N, Brand, G, Schwartz, F, Rey, A, Munnich, S L, Woo, Y, Shiloh   +11 more
openaire   +2 more sources

Hyperphenylalaninemias and Tyrosinemias

Clinics in Perinatology, 1976
Discussion 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   +2 more sources

Hyperphenylalaninemia with defective transamination

Clinica Chimica Acta, 1983
Blood 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.
K, Blau, G A, Levitt, D R, Harvey
openaire   +2 more sources

Neonatal Hyperphenylalaninemia: A differential diagnosis

Neuropediatrics, 1970
On 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
openaire   +2 more sources

Effect of insulin on hyperphenylalaninemia rats

Biochemical Medicine, 1979
Abstract The influence of insulin on hydroxylation and decarboxylation of tyrosine was examined in control and hyper-Phe rats. Insulin elevated brain tyrosine hydroxylase activity in both control and hyper-Phe rats. Insulin administration also increased the decarboxylation of tyrosine in the brain and liver of control rats.
T, Shohmori, M, Okita, M, Kohsaka
openaire   +2 more sources