|1|Micronutrient in hyperphenylalaninemia. (26322328)
Crujeiras V.... Couce M.L.
|2|Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. (22205310)
Prick B.W.... Duvekot J.J.
|3|Use of acute hyperphenylalaninemia in rhesus monkeys to examine sensitivity and stability of the L-[1-11C]leucine method for measurement of regional rates of cerebral protein synthesis with PET. (18431402)
Smith C.B.... Herscovitch P.
|4|Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms. (18276179)
Horvath G.A.... Waters P.J.
|5|Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants. (18346471)
Daniele A.... Salvatore F.
|6|Diagnosis, treatment and long-term following up of 223 patients with hyperphenylalaninemia detected by neonatal screening programs]. (17708870)
Ye J.... Gu X.F.
|7|Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder? (16182582)
Waters P.J.... Vallance H.D.
|8|Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. (14681498)
Shintaku H.... Kitagawa T.
|9|Experimental hyperphenylalaninemia provokes oxidative stress in rat brain. (11997085)
Kienzle Hagen M.E.... Dutra-Filho C.S.
|10|Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. (11940335)
Ye J.... Gu X.
|11|Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. (11592814)
Blau N.... ThAPny B.
|12|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.
|13|A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia. (10767173)
Sarkissian C.N.... Scriver C.R.
|14|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.
|15|Neuropsychological function in mild hyperphenylalaninemia. (10755172)
Smith M.L.... Clarke J.T.
|16|Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates. (10404727)
Schulze A.... Mayatepek E.
|17|Mutations causing hereditary hyperphenylalaninemia]. (10910639)
Zekanowski C.... Bal J.
|18|Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia. (9521426)
Bosco P.... Romano V.
|19|Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non- phenylketonuria hyperphenylalaninemia. (9852673)
Kibayashi M.... Chiba S.
|20|Identification of Mutations Causing 6-Pyruvoyl- Tetrahydrobiopterin Synthase Deficiency in Polish Patients With Variant Hyperphenylalaninemia. (10089284)
Zekanowski C.... Bal J.
|21|Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt. (8682503)
HASHEM N.... Romano V.
|22|Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia. (7749420)
PAcrez B.... Ugarte M.
|23|Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia. (7508163)
de Almeida I.T.... Blau N.
|24|Elevated phenylalanine concentrations in benign hyperphenylalaninemia from evaporated milk feedings. (8432076)
Miller M.E.... Blakely E.
|25|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.
|26|A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs. (1301942)
Kleiman S.... Shiloh Y.
|27|On the mechanism of permanent brain dysfunction in hyperphenylalaninemia. (1793607)
|28|Cognitive profile of rats exposed to lactational hyperphenylalaninemia: correspondence with human mental retardation. (2379759)
Strupp B.J.... Kesler M.
|29|Branched chain amino acids improve complex maze learning in rat offspring prenatally exposed to hyperphenylalaninemia: implications for maternal phenylketonuria. (2740145)
Vorhees C.V.... Berry H.K.
|30|Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin. (2675577)
Matalon R.... Rouse B.
|31|Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia. (3382399)
Curtius H.C.... Dhondt J.L.
|32|Hyperphenylalaninemia syndromes: current status of diagnosis and management. (3286956)
|33|Effects of hyperphenylalaninemia in the fetal stage on the postnatal development of fetal rat brain. (2997643)
Hirano S.... Nakai K.
|34|Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. (6727966)
Buist N.R.... Penn R.
|35|Intracellular phenylalanine and tyrosine concentration in homozygotes and heterozygotes for phenylketonuria (PKU) and hyperphenylalaninemia compared with normals. (7106768)
Thalhammer O.... Coradello H.
|36|Chronic hyperphenylalaninemia produces cerebral hyperglycinemia in immature rats. (6257849)
|37|Hyperphenylalaninemia due to impaired dihydrobiopterin biosynthesis. (7262099)
Tanaka T.... Usui T.
|38|Effect of hyperphenylalaninemia on Na+ + K+-ATPase in rat brain. (6118285)
Dwivedy A.K.... Shah S.N.
|39|Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine. (7367090)
Milstien S.... Summer G.K.
|40|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.
|41|Alpha-methylphenylalanine, a new inducer of chronic hyperphenylalaninemia in sucling rats. (944951)
Greengard O.... Del Valle J.A.
|42|Tolerance of protein and lipid synthesis to mild hyperphenylalaninemia in developing rat brain. (1174961)
Geison R.L.... Siegel F.L.
|43|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.
|44|Effect of hyperphenylalaninemia on fatty acid composition of lipids of rat brain myelin. (4357501)
Johnson R.C.... Shah S.N.
|45|Experimental maternal hyperphenylalaninemia: disaggregation of fetal brain ribosomes. (4269294)
Copenhaver J.H.... Carver M.J.
|46|Persistent hyperphenylalaninemia. (5021455)
GA1ttler F.... Wamberg E.
|47|Sex ratio in hyperphenylalaninemia. (5434124)
Dobson J.C.... Koch R.
|48|Hyperphenylalaninemia: the effect of cerebral amino acid levels during development. (5404016)
Lowden J.A.... LaRamAce M.A.
|49|Role of hyperphenylalaninemia in pregnant women as a cause of mental retardation in offspring. (6042624)
|50|Dietary induction of hyperphenylalaninemia in the rat. (6067644)
Kerr G.R.... Waisman H.A.