Results 221 to 230 of about 7,599 (237)

The Genetic Landscape and Epidemiology of Phenylketonuria

American Journal of Human Genetics, 2020
Alberto Burlina, Marystela Ferreira, John Christodoulou   +2 more
exaly  

Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies

American Journal of Clinical Nutrition, 2012
Johannes J Duvekot
exaly  

Early diagnosis of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia)

The Journal of Pediatrics, 1980
David M. Danks, David M. Danks, Richard G.H. Cotton, Richard G.H. Cotton   +3 more
openaire   +3 more sources

Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia

Movement Disorders, 2011
Thomas Opladen, Nicole I Wolf, F A Di Bello   +2 more
exaly  

DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis

European Journal of Human Genetics, 2018
Neal Sondheimer, Saadet Mercimek-andrews
exaly  

Demyelination in Hyperphenylalaninemia

Annals of the New York Academy of Sciences, 1990
openaire   +2 more sources

Hyperphenylalaninemia reduces creatine kinase activity in the cerebral cortex of rats

International Journal of Developmental Neuroscience, 2003
Angela T S Wyse, Bianca Seminotti, Moacir Wajner   +2 more
exaly  

HYPERPHENYLALANINEMIA WITHOUT PHENYLKETONURIA

Developmental Medicine & Child Neurology, 1967
openaire   +3 more sources

Reassessing the significance of the PAH c.158G>A (p.Arg53His) variant in patients with hyperphenylalaninemia

Journal of Pediatric Endocrinology and Metabolism, 2017
Hyung-doo Park, Chang-seok Ki, Soo-youn Lee   +2 more
exaly  

More on Untreated Maternal Hyperphenylalaninemia

New England Journal of Medicine, 1984
Kirkman Hn, Hicks Re
openaire   +3 more sources