Results 241 to 250 of about 68,473 (259)

Hyperphenylalaninemia

2011
openaire   +1 more source

Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma

Scientific Reports, 2018
Jun Ye, Lianshu Han, Yaoshen Wang
exaly  

[Hyperphenylalaninemia].

Ryoikibetsu shokogun shirizu, 2001
openaire   +1 more source

Nonphenylketonuric Hyperphenylalaninemia

Archives of Pediatrics & Adolescent Medicine, 1989
openaire   +1 more source

BH4-sensitive hyperphenylalaninemia

Pediatric Neurology, 2003
Thomas Lücke, Sabine Illsinger, Christa Aulehla-Scholz, Johannes Sander, Anibh M. Das   +4 more
openaire   +1 more source

Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia

American Journal of Human Genetics, 2001
exaly  

Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: Implications for tetrahydrobiopterin-responsive hyperphenylalaninemia

FEBS Letters, 2004
Zhaobing Ding
exaly  

Lipoic acid prevents oxidative stress in vitro and in vivo by an acute hyperphenylalaninemia chemically-induced in rat brain

Journal of the Neurological Sciences, 2010
Moacir Wajner, Dutra-Filho, Cs
exaly  

Tetrahydrobiopterin Deficiencies without Hyperphenylalaninemia: Diagnosis and Genetics of DOPA-Responsive Dystonia and Sepiapterin Reductase Deficiency

Molecular Genetics and Metabolism, 2001
exaly  

Prognosis after hyperphenylalaninemia

The Journal of Pediatrics, 1983
openaire   +1 more source