|1|Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling. (25726095)
Trefz F.... Munafo A.
|2|A novel PCBD gene mutation in an Iranian patient with hyperphenylalaninemia. (24133926)
Raeisi M.... Zeinali S.
|3|Mutation analysis in hyperphenylalaninemia patients from South Italy. (23792259)
Trunzo R.... Margaglione M.
|4|Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province]. (24078561)
Zhang J.J.... Xu Z.F.
|5|Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia. (24376837)
Pascucci T.... Puglisi-Allegra S.
|6|Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. (22205310)
Prick B.W.... Duvekot J.J.
|7|Lipoic acid prevents oxidative stress in vitro and in vivo by an acute hyperphenylalaninemia chemically-induced in rat brain. (20226470)
Moraes T.B.... Dutra-Filho C.S.
|8|Incidence of neonatal hyperphenylalaninemia in fars province, South iran. (23056707)
Karamifar H.... Amirhakimi G.H.
|9|Spotlight on sapropterin in primary hyperphenylalaninemia. (19627172)
Sanford M.... Keating G.M.
|10|Diagnosis, treatment and long-term following up of 223 patients with hyperphenylalaninemia detected by neonatal screening programs]. (17708870)
Ye J.... Gu X.F.
|11|Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. (14681498)
Shintaku H.... Kitagawa T.
|12|Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. (11940335)
Ye J.... Gu X.
|13|Hyperphenylalaninemia and birth weight. (12381438)
Bianca S.... Mollica F.
|14|Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. (11438997)
Liu T.T.... Hsiao K.J.
|15|A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia. (10767173)
Sarkissian C.N.... Scriver C.R.
|16|Measurement of phenyllactate, phenylacetate, and phenylpyruvate by negative ion chemical ionization-gas chromatography/mass spectrometry in brain of mouse genetic models of phenylketonuria and non-phenylketonuria hyperphenylalaninemia. (10790306)
Sarkissian C.N.... Mamer O.A.
|17|Neuropsychological function in mild hyperphenylalaninemia. (10755172)
Smith M.L.... Clarke J.T.
|18|Mutations causing hereditary hyperphenylalaninemia]. (10910639)
Zekanowski C.... Bal J.
|19|Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia. (9521426)
Bosco P.... Romano V.
|20|Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt. (8682503)
HASHEM N.... Romano V.
|21|Microcephaly in a hyperphenylalaninemic infant leading to the diagnosis of maternal hyperphenylalaninemia. (8929743)
Gungor N.... Ozalp I.
|22|Maternal mild hyperphenylalaninemia: results of treated and untreated pregnancies in two sisters. (8071761)
Levy H.L.... GA1ttler F.
|23|Branched chain amino acids improve radial-arm maze acquisition and water maze forced-choice learning in rat offspring exposed in utero to hyperphenylalaninemia. (1593977)
Vorhees C.V.... Berry H.K.
|24|Biopterin-responsive hyperphenylalaninemia. (1297822)
|25|Experimental hyperphenylalaninemia in the pregnant guinea pig: possible phenylalanine teratogenesis and p-chlorophenylalanine embryotoxicity. (2962329)
Kronick J.B.... McCallion D.J.
|26|Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency. (3873535)
Dhondt J.L.... Leeming R.J.
|27|Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. (6727966)
Buist N.R.... Penn R.
|28|Effect of experimental hyperphenylalaninemia on biogenic amine synthesis at later stages of brain development. (6615490)
Taylor E.H.... Stewart D.E.
|29|Effects of maternal hyperphenylalaninemia on fetal brain development: a morphological study. (6681776)
Spero D.A.... Yu M.C.
|30|Hyperphenylalaninemia (PKU) and hypothyroid testing. (6958065)
Stanage W.F.... Gregg J.B.
|31|The effects of hyperphenylalaninemia on fetal development: a new animal model of maternal phenylketonuria. (7201630)
Brass C.A.... Greengard O.
|32|Chronic hyperphenylalaninemia produces cerebral hyperglycinemia in immature rats. (6257849)
|33|Effect of hyperphenylalaninemia on Na+ + K+-ATPase in rat brain. (6118285)
Dwivedy A.K.... Shah S.N.
|34|Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine. (7367090)
Milstien S.... Summer G.K.
|35|The effect of hyperphenylalaninemia on size and density of synapses in rat neocortex. (509232)
Nigam M.P.... Labar D.R.
|36|Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells. (978323)
Milstien S.... Kaufman S.
|37|Alpha-methylphenylalanine, a new inducer of chronic hyperphenylalaninemia in sucling rats. (944951)
Greengard O.... Del Valle J.A.
|38|The frequency of PKU and hyperphenylalaninemia in Sweden - a study in institutions for the mentally retarded as well as in neonates. (991440)
Holmgren G.... Alm J.
|39|Lipid metabolism in liver and brain in acute hyperphenylalaninemia in rats of different ages. Correlation with tissue phenylalanine and tyrosine levels. (4844245)
Geison R.L.... Josephson L.
|40|Use of a formula based on whey protein concentrate in the feeding of an infant with hyperphenylalaninemia. (4462035)
Hambroeus L.... Lorentsson R.
|41|Effect of hyperphenylalaninemia on fatty acid composition of lipids of rat brain myelin. (4357501)
Johnson R.C.... Shah S.N.
|42|Persistent hyperphenylalaninemia. (5021455)
GA1ttler F.... Wamberg E.
|43|Hyperphenylalaninemia and pregnancy. (5078181)
|44|Automated screening procedure for hyperphenylalaninemia. (5562038)
|45|Sex ratio in hyperphenylalaninemia. (5434124)
Dobson J.C.... Koch R.
|46|Mental retardation in a family with phenylketonuria and mild hyperphenylalaninemia. (5374976)
Cohen B.E.... Goland R.
|47|Role of hyperphenylalaninemia in pregnant women as a cause of mental retardation in offspring. (6042624)
|48|Dietary induction of hyperphenylalaninemia in the rat. (6067644)
Kerr G.R.... Waisman H.A.
|49|Hyperphenylalaninemia without phenylketonuria. (6036013)
|50|Diagnostic and therapeutic implications of persistent hyperphenylalaninemia in an infant heterozygous for the gene of phenylketonuria. (5910762)
Schneider A.J.... Garrard S.D.