| Excerpt | Reference |
|---|
| "Phenylketonuria is an autosomal recessive inherited disease caused by a disturbance in the phenylalanine hydroxylating system." | ( Bartholomé, K, 1979) |
| "Phenylketonuria is due in the very great majority of cases to a deficiency in phenylalanine hydroxylase, an enzyme whose cofactor is biopterin." | ( Farriaux, JP; Frézal, J, 1992) |
| "If phenylketonuria is untreated in infancy, it causes irreversible brain damage." | ( Hoskin, RG; Howard, R; Sasitharan, T, 1992) |
| "Phenylketonuria is a metabolic disorder that results from a deficiency of the hepatic enzyme phenylalanine hydroxylase." | ( Dasovich, M; Eisensmith, RC; Güttler, F; Henriksen, K; Konecki, DS; Lichter-Konecki, U; Lou, H; Okano, Y; Trefz, FK; Wang, T, 1991) |
| "Dihydropteridine reductase deficiency is a rare cause of hyperphenylalaninaemia, characterized by severe and progressive neurological impairment, despite early and accurate dietary control of plasma phenylalanine." | ( Buttè, C; Giovannini, M; Longhi, R; Paccanelli, S; Riva, E; Valsasina, R, 1985) |
| "Phenylketonuria is currently treated by a special diet to avoid elevated blood concentration of the essential amino acid phenylalanine." | ( Scarpalezou, A; Schulpi, KH, 1989) |
| "Phenylketonuria is still a brilliant example that early diagnosis, immediate onset of treatment and carefully controlled diet enable the patient to grow up normally." | ( Wachtel, U, 1986) |
| "Maternal phenylketonuria is a new entity in obstetrics." | ( Erbe, RW; Ghavami, M; Levy, HL, 1986) |
| "Phenylketonuria is a human model for the study of the effects of phenylalanine on brain function." | ( Averbook, A; Dembure, P; Elsas, L; Epstein, C; Krause, W, 1986) |
| "Tetrahydrobiopterin deficiency is a rare cause of hyperphenylalaninemic syndromes." | ( Dhondt, JL, 1984) |
| "Phenylketonuria is a genetic defect that leads to imbecility, if the diagnosis is not made directly after birth." | ( Lane, JD; Neuhoff, V, 1980) |
| "Dihydropteridine reductase deficiency is a recessively inherited disorder of the amino acid metabolism resulting in a deficiency of tetrahydrobiopterin, an essential cofactor for phenylalanine, tyrosine and tryptophan metabolism." | ( Pogson, D, 1997) |
| "Phenylketonuria is an inherited metabolic condition in which there is a deficiency of the enzyme phenylalanine hydroxylase." | ( Start, K, 1998) |
| "Phenylketonuria is an inherited disease for which the main treatment is the dietary restriction of the amino acid phenylalanine." | ( Poustie, VJ; Rutherford, P, 2000) |
| "Phenylketonuria is an inherited metabolic disorder caused by a defect in the hydroxylation of phenylalanine." | ( Allué, JA; Grijalba, A; Merlo, SG; Palacios, M; Rivero, A, 2000) |
| "Although untreated phenylketonuria is typically associated with severe neurological dysfunction beginning in early childhood, this case shows that disability may be delayed until adulthood." | ( Jinnah, HA; Kasim, S; Moo, LR; Zschocke, J, 2001) |
| "Phenylketonuria is a flagship inborn error of metabolism and has been at the forefront of our growing understanding, diagnosis, and treatment of this family of disorders." | ( Cederbaum, S, 2002) |
| "Phenylketonuria is an inherited disorder, which prevents the normal use of protein food and causes changes in body chemistry, which, if left uncontrolled can lead to severe learning disabilities." | ( Bieliauskaite, R; Cimbalistiene, L; Jusiene, R, 2002) |
| "Phenylketonuria is caused by specific mutations in the phenylalanine hydroxylase gene and is characterized by elevated blood phenylalanine levels, hypomyelination in forebrain structures, reduced dopamine levels, and cognitive difficulties." | ( Dyer, CA; Joseph, B, 2003) |
| "If phenylketonuria is diagnosed during the first few weeks of life, a special diet can be given to prevent the brain damage that otherwise will occur." | ( FLEMING, W; NOTRICASIN, HR, 1964) |
| "BH4-responsive PAH deficiency is a variant of hyperphenylalaninemia or phenylketonuria (PKU) caused by mutations in the human PAH gene that respond to oral BH4 loading by stimulating enzyme activity and therefore lowering serum phenylalanine." | ( Ding, Z; Martínez, A; Thöny, B, 2004) |
| "Phenylketonuria is an inherited disease characterised by an absence or deficiency of the enzyme phenylalanine hydroxylase." | ( Poustie, VJ; Rutherford, P, 2005) |
| "Phenylketonuria is an inherited metabolic disease, which is characterized by an increased level of serum phenylalanine." | ( Moeini, H; Vallian, S, 2006) |
| "Phenylketonuria is an inherited metabolic disease, which is characterized by increased level of serum phenylalanine (Phe)." | ( Moeini, H; Vallian, S, 2006) |
| "Phenylketonuria is an autosomal recessive disorder characterized by elevated concentrations of phenylalanine." | ( Ashurst, CL; Berglund, D; Ernst, SL; Ghanem, AH; Higuchi, WI; Kochambilli, RP; Li, SK; Longo, N; Papangkorn, K; Pasquali, M; Yan, G, 2007) |
| "The outcome in phenylketonuria is related to the early diagnosis and management due to neonatal screening." | ( Battaglia-Hsu, SF; Chery, C; Favre, E; Feillet, F; Guéant, JL; Kimmoun, A; Lorentz, E; Namour, F, 2008) |
| "Phenylketonuria is an inherited metabolic disorder characterised by an absence or deficiency of the enzyme phenylalanine hydroxylase." | ( Singh, RH; Yi, S, 2008) |
| "Untreated phenylketonuria is characterized by neurocognitive and neuromotor impairment, which result from elevated blood phenylalanine concentrations." | ( Clarke, L; Dorenbaum, A; Feillet, F; Foehr, E; Giovannini, M; Green, B; Harmatz, P; Lipson, M; Meli, C; Morris, AA; Mould, DR, 2008) |
| "Phenylketonuria is the best known pathology of amino acid metabolism." | ( Lehnen, H; Pascheberg, U; Schwennicke, C; Vinke, M, 2009) |
| "Phenylketonuria is the most frequent disturbance of amino acid metabolism." | ( Barden, AT; Barschak, AG; Biancini, GB; de Souza, CF; Deon, M; Netto, C; Sitta, A; Vargas, CR; Vargas, PR; Wajner, M, 2009) |
| "Phenylketonuria is the most common inborn error of metabolism." | ( Bik-Multanowski, M; Pietrzyk, JJ, 2009) |
| "Phenylketonuria is an autosomal recessive disorder caused by a deficiency of phenylalanine hydroxylase." | ( Choi, JO; Jung, SC; Lee, MH; Park, HY; Park, JW, 2010) |
| "Phenylketonuria is an inherited disease treated with dietary restriction of the amino acid phenylalanine." | ( Poustie, VJ; Wildgoose, J, 2010) |
| "Phenylketonuria is discussed from an European perspective, addressing the need of common definitions of terms commonly used, the need of a world-wide guideline on the diagnosis and treatment of phenylketonuria, the differences between existing European guidelines, and day-to-day care, further directives for the near future, and changing the concept from compliance to concordance, in which patients have a more clearly defined responsibility." | ( van Spronsen, FJ, 2010) |
| "Phenylketonuria is an inherited disease for which the main treatment is the dietary restriction of the amino acid phenylalanine." | ( Webster, D; Wildgoose, J, 2010) |
| "Phenylketonuria and tetrahydrobiopterin deficiency are rare congenital disorders involving phenylalanine metabolism." | ( , 2010) |
| "Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the essential amino acid phenylalanine." | ( Mitchell, JJ; Scriver, CR; Trakadis, YJ, 2011) |
| "Phenylketonuria is the most common inborn error of metabolism." | ( Bik-Multanowski, M; Pietrzyk, JJ, 2011) |
| "Phenylketonuria is characterized by a variable degree of mental retardation and other neurological features whose mechanisms are not fully understood." | ( Berti, SL; Castro, FL; Dutra-Filho, CS; Garcia, C; Moraes, TB; Nasi, GM; Nunes, ML; Rojas, DB; Wannmacher, CM, 2012) |
| "Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency." | ( Boemer, F; Debray, FG; Gersting, SW; Goffette, P; Goyens, P; Jazouli, N; Menten, R; Muntau, AC; Najimi, M; Sana, G; Schoos, R; Smets, F; Sokal, EM; Stéphenne, X; Tondreau, T, 2012) |
| "Phenylketonuria is an inherited disease for which the main treatment is the dietary restriction of the amino acid phenylalanine." | ( Webster, D; Wildgoose, J, 2013) |
| "Phenylketonuria is an inherited disorder of metabolism of the amino acid phenylalanine caused by a deficit of the enzyme phenylalanine hydroxylase." | ( Doležel, Z; Jarkovský, J; Konečná, P; Machačová, L; Procházková, D; Vinohradská, H, 2013) |
| "Phenylketonuria is an inborn error of metabolism, involving, in most cases, a deficient activity of phenylalanine hydroxylase." | ( Almeida, MF; Alves, RC; Costa, AS; Oliveira, MB; Pimentel, FB; Torres, D, 2014) |
| "Pharmacotherapy for phenylalanine hydroxylase deficiency is in early stages with one approved medication (sapropterin, a derivative of the natural cofactor of phenylalanine hydroxylase) and others under development." | ( Andersson, HC; Antshel, KM; Berry, SA; Braverman, NE; Burton, BK; Frazier, DM; Mitchell, J; Smith, WE; Thompson, BH; Vockley, J, 2014) |
| "Phenylketonuria is an inherited disease caused by impaired activity of phenylalanine hydroxylase, the enzyme that converts phenylalanine to tyrosine, leading to accumulation of phenylalanine and subsequent neurocognitive dysfunction." | ( Burton, BK; Dorenbaum, A; Grange, DK; Gu, Z; Harding, CO; Longo, N; Musson, DG; Neuenburg, JK; Rice, GM; Sile, S; Vockley, J; Wasserstein, M, 2014) |
| "Phenylketonuria is an inherited metabolic disorder characterised by an absence or deficiency of the enzyme phenylalanine hydroxylase." | ( Singh, RH; Yi, SH, 2015) |
| "Phenylketonuria is an inborn error of metabolism treated with a closely monitored low phenylalanine diet." | ( Gładysz, D; Hozyasz, KK; Korycińska-Chaaban, D; Nowacka, M; Przybylska-Kruszewska, A; Zielińska, M; Żółkowska, J, 2016) |
| "Phenylketonuria is characterized by mutations in the Phe hydroxylase gene that leads to the accumulation of Phe in plasma and the brain." | ( Cheng, B; Elango, R; Giezen, A; Salvarinova, R; Stockler-Ipsiroglu, S; Turki, A; Ueda, K, 2017) |
| "Starting from 1975 phenylketonuria is part of the newborn screening program in Hungary." | ( Barta, AG; Reismann, P; Sumánszki, C, 2017) |
| "The pathogenesis of phenylketonuria is complex in nature." | ( Cháfer-Pericás, C; Correcher, P; García-Blanco, A; Rausell, D; Vento, M; Vitoria, I, 2019) |
| "Phenylketonuria is a genetic disorder affecting the metabolism of phenylalanine (phe) due to a deficiency in the enzyme phenylalanine hydroxylase." | ( Berkovska, O; Burger, M; Gourmel, C; Leroux, JC; Pereira de Sousa, I, 2020) |
| "Phenylketonuria is an inborn error of phenylalanine (Phe) metabolism diagnosed by newborn screening and treated early with diet." | ( Bravaccio, C; Marino, M; Parenti, G; Riccio, MP; Scala, I; Strisciuglio, P, 2020) |
| "Phenylketonuria is an inherited disease treated with dietary restriction of the amino acid phenylalanine." | ( Jameson, E; Remmington, T, 2020) |
| "Phenylketonuria is an inherited disease for which the main treatment is the dietary restriction of the amino acid phenylalanine." | ( Remmington, T; Smith, S, 2021) |
| "Phenylketonuria is an inherited metabolic disease, of autosomal recessive transmission, due to the enzymatic deficit of phenylalanine hydroxylase, which transforms phenylalanine into tyrosine." | ( Boemer, F; Debray, FG; Kabbaj, SE; Meiouet, F, 2021) |
| "Even though PAH deficiency is the most common defect of amino acid metabolism in humans, brain dysfunction in individuals with PKU is still not well understood and further research is needed to facilitate development of pathophysiology-driven treatments." | ( Blau, N; Bosch, AM; Burlina, A; Harding, C; Longo, N; van Spronsen, FJ, 2021) |
| Excerpt | Reference |
|---|
| "An experimental phenylketonuria-like syndrome was produced in rats by oral administration of 1-phenylalanine (Phe, 500 mg/kg) and dl-p-chloro-phenylalanine (pCPA, 100-125 mg/kg) daily from the 2nd-3rd day of life to the age of 42 days." | ( Airaksinen, MM; MacDonald, EJ; Marvola, M; Turakka, H, 1975) |
| "These manifestations of phenylketonuria were reproduced in rats treated with phenylacetate in amounts approximating those likely to be produced in phenylketonuria." | ( Loo, YH; Scotto, J; Wisniewski, HM, 1978) |
| "Twenty early-treated children with classical phenylketonuria (PKU), five early-treated children with variant PKU and seven untreated children with hyperphenylalinemia were compared with non-PKU family members in terms of intellectual development, and 14 school-age PKU children were also compared for academic achievement." | ( Berry, HK; Bofinger, MK; O'Grady, DJ; Perlmutter, LJ, 1979) |
| "Two patients with phenylketonuria detected by newborn screening for inborn errors of metabolism were treated with low phenylanine formulae." | ( Kambe, M; Matsuda, I; Nagata, N; Shinozuka, S; Tsuji, Y, 1979) |
| "Two patients with phenylketonuria (PKU) requiring treatment were fed on low protein milks." | ( Allen, J; Burman, D; Holton, J, 1977) |
| "Of the 216 children with phenylketonuria (PKU) who were initially enrolled in the Collaborative Study of Children Treated for Phenylketonuria, 203 were placed on dietary therapy between 3 and 92 days of age." | ( Azen, C; Dobson, JC; Koch, R; Williamson, ML, 1977) |
| "Children with early treated phenylketonuria (ETPKU), a disorder associated with developmental dopamine depletion, were tested with a visual orienting paradigm to determine the existence of lateralized deficits in specific attentional operations." | ( Bonforte, S; Craft, S; Dowton, SB; Gourovitch, ML; Swanson, JM, 1992) |
| "We report a child in whom dihydropteridine reductase deficiency was diagnosed prenatally because of an affected sibling and who was treated from birth with apparent good response." | ( Cotton, RG; Earl, JW; Lipson, AH; O'Halloran, M; Wilcken, B; Yu, JS, 1991) |
| "Fifty-one adults with untreated phenylketonuria (PKU), have been reviewed after a 20 year interval, at ages ranging from 28." | ( Danks, DM; Pitt, DB, 1991) |
| "A total of 599 children with phenylketonuria, who had been treated early, were followed up prospectively in order to examine the association between intellectual progress from 4 to 14 years of age and control of phenylalanine concentrations." | ( Ades, AE; Beasley, MG; Smith, I, 1991) |
| "Seven subjects homozygous for phenylketonuria (PKU) and seven normal subjects were administered four beverage regimens after an overnight fast: unsweetened beverage, beverage providing carbohydrate (CHO), beverage providing aspartame (APM), and beverage providing APM plus CHO." | ( Bell, EF; Brummel, MC; Filer, LJ; Krause, WL; Persoon, TJ; Stegink, LD; Wolf-Novak, LC; Ziegler, EE, 1990) |
| "Early treatment of phenylketonuria by dietary phenylalanine restriction prevents brain damage." | ( Berry, HK; Brunner, RL; Hunt, MM; White, PP, 1990) |
| "Treatment for phenylketonuria (PKU) involves using low phenylalanine-free or phenylalanine-free formulas and supplementation with sufficient phenylalanine for normal growth and development." | ( Ernest, AE; Garry, PJ; McCabe, ER; McCabe, L; Neifert, MR; Nord, AM; Yannicelli, S, 1989) |
| "Early treated phenylketonuria (PKU) children have a good outcome." | ( Rylance, G, 1989) |
| "The risk of maternal phenylketonuria and hyperphenylalaninemia syndrome, a preventable cause of severe birth defects and retardation with a near 100% recurrence risk if untreated, is increasing in the United States." | ( Greene, CL; Luder, AS, 1989) |
| "Six other reported cases of DHPR deficiency demonstrated similar calcifications prior to folinic acid therapy." | ( Brewster, MA; Glasier, C; Woody, RC, 1989) |
| "64 infants born to women with phenylketonuria (PKU) were grouped according to the mother's dietary treatment in pregnancy." | ( Beasley, M; Drogari, E; Lloyd, JK; Smith, I, 1987) |
| "Mild maternal phenylketonuria needs treatment during pregnancy." | ( De Klerk, JB; Dijkhuis, HJ; Meuleman, EE; Wadman, SK, 1987) |
| "In three untreated patients with phenylketonuria (PKU), three PKU and six hyperphenylalaninaemic (HPA) patients in good metabolic control, the kinetic constants of platelet in vitro uptake of [14C]serotonin (5HT) did not significantly differ from those in 12 control subjects matched for age." | ( Bondiolotti, GP; Cesura, AM; Galva, MD; Giovannini, M; Longhi, R; Picotti, GB; Riva, E; Valsasina, R, 1988) |
| "BH4 therapy has been attempted in atypical PKU and in neuropsychiatric illness with some success and may become more viable as more is learned about BH4 metabolism and ways are discovered to elevate brain BH4 levels." | ( Levine, RA, 1988) |
| "The literature on maternal phenylketonuria (MPKU) is reviewed in terms of its identification, description, and treatment." | ( Lowitzer, AC, 1987) |
| "In 34 children with phenylketonuria (PKU) treated early the prognostic value of the age on institution of the diet (within the first 3 months of life) and of the quality of dietary treatment was determined in two different ways: 1) following intelligence closely (IQ) and (2) evaluating the EEG development up to their 12th (n = 34) and 15th (n = 18) years of life as appropriate." | ( Benninger, C; Bickel, H; Pietz, J; Scheffner, D; Schmidt, H, 1988) |
| "Ninety-one individuals with phenylketonuria who were treated early in life were followed for as many as 22 years." | ( Levy, HL; Mahon, BE; Schnell, RR; Waisbren, SE, 1987) |
| "In 123 infants phenylketonuria was diagnosed, so they were treated with the low phe diet." | ( Bozkowa, K; Cabalska, B; Duczynska, N; Nowaczewska, I, 1985) |
| "Since subvariants of patients with BH4 deficiency exist, homovanillic acid, 5-hydroxyindole acetic acid, pterins, phenylalanine, and tyrosine in cerebrospinal fluid should be measured for diagnosis and the control of therapy." | ( Curtius, HC; Niederwieser, A; Ponzone, A, 1985) |
| "Fourteen patients with classic phenylketonuria (PKU) were treated with a phenylalanine restricted diet from early infancy." | ( Bapat, V; Friedman, E; Novelly, RA; Seashore, MR, 1985) |
| "The decision to continue treatment for phenylketonuria (PKU) patients into adolescence and adulthood presents a challenge to nutritionists and other professionals who must motivate patients to maintain the diet and give them support." | ( Berry, HK; Hunt, MM; White, PP, 1985) |
| "The biochemical features of phenylketonuria have been reproduced in developing rat pups by administering to them a combination of p-chloro-DL-phenylalanine plus L-phenylalanine for the first 21 days after birth." | ( Andersen, AE; Guroff, G; Rowe, V, 1974) |
| "Two siblings with DHPR deficiency had low amine metabolite values in CSF; in one patient the metabolic defect was corrected by administration of hydroxylated amino acid precursors." | ( Butler, IJ; Howell, RR; O'Flynn, ME; Seifert, WE, 1981) |
| "In a child presenting with malignant phenylketonuria due to dihydrobiopterin synthetase deficiency, the authors studied the cerebrospinal fluid (CSF) homovanillic acid and 5 hydroxyindole acetic acid levels under different circumstances: without treatment; under a treatment with tetrahydrobiopterin used alone at various doses; under a treatment associating BH4, L-dopa, 5 hydroxytryptophan and carbidopa, with increasing doses and varying administration schedules." | ( Boespflug, O; Demeocq, F; Guyon, A; Malpuech, G; Piton, A; Vanlieferinghen, P, 1984) |
| "Among the patients with atypical PKU, who were treated early, the mean IQs were 110." | ( Hanley, WB; Netley, C; Rudner, HL, 1984) |
| "We studied the effects of maternal phenylketonuria and hyperphenylalaninemia on 53 offspring from untreated pregnancies in 22 mothers who were identified by routine screening of umbilical-cord blood." | ( Levy, HL; Waisbren, SE, 1983) |
| "Atypical phenylketonuria among infants with hyperphenylalaninemia must be promptly diagnosed and differentiated from classical phenylketonuria, because these patients require different treatment to prevent irreversible neurological damage." | ( Heininger, JA; Lin, YY; Matsubara, Y, 1984) |
| "About two-thirds of 90 clinics treating phenylketonuria (PKU) now recommend indefinite continuation of a low phenylalanine diet as compared to 1978 when fewer than one-fourth had this policy." | ( Brown, ES; Schuett, VE, 1984) |
| "Experimental phenylketonuria was induced in newborn rats by administration of L-phenylalanine and alpha-methylphenylalanine." | ( Huether, G; Neuhoff, V, 1981) |
| "Children with phenylketonuria (PKU) are treated with semi-synthetic diets restricted in phenylalanine." | ( Acosta, PB; Elsas, LJ; Ernest, A; Fernhoff, PM; Hambidge, KM; McCabe, ER; Warshaw, HS, 1982) |
| "Twenty-seven children with phenylketonuria who had undergone dietary restriction of phenylalanine since infancy were administered a battery of neuropsychologic tests in childhood." | ( Berry, HK; Brunner, RL; Jordan, MK, 1983) |
| "Untreated phenylketonuria (PKU) is characterized by excretion of phenylpyruvic acid in the urine and mental retardation." | ( Zwaan, J, 1983) |
| "Untreated maternal phenylketonuria (PKU) may result in nonphenylketonuric offspring with mental retardation, microcephaly, congenital heart disease, and low birth weight." | ( Lenke, RR; Levy, HL, 1982) |
| "A woman with apparently classic phenylketonuria (PKU) was treated from the sixth week of her pregnancy with a diet restricted to phenylalanine and supplemented with tyrosine." | ( Justice, CL; Michels, VV, 1982) |
| "The overall incidence of persistent hyperphenylalaninaemia was of the order of 7 per 100 000 births (or 1 in 15 000) and all the early treated patients made normal developmental progress." | ( Clayton, BE; Ersser, RS; Francis, DE; Lilly, P; Seakins, JW; Smith, I; Walker, V; Whiteman, PD, 1981) |
| "The children with phenylketonuria were treated with low-phenylalanine diets and have shown improvement in functioning and developmental level since treatment." | ( Cohen, DJ; Lowe, TL; Seashore, MR; Tanaka, K; Young, JG, 1980) |
| "One patient with atypical phenylketonuria (PKU) due to a tetrahydrobiopterin (BH4) deficiency was dosed without and during BH4 treatment." | ( Curtius, HC; Farner, H; Rey, F, 1980) |
| "Thirty-three children with classical phenylketonuria were treated from 9 to 21 days of age onward." | ( Doesburg, WH; Sengers, RC; van der Schot, LW, 1994) |
| "The age at which children suffering from classical phenylketonuria can safely discontinue their dietary therapy has been constantly disputed over the past decades." | ( Potocnik, U; Widhalm, K, 1994) |
| "Six treated adult patients with phenylketonuria were investigated repeatedly following reinstitution of a Phe-restricted diet." | ( Koch, HG; Möller, HE; Peters, PE; Ullrich, K; Vermathen, P; Weglage, J, 1995) |
| "Severe mental handicap in phenylketonuria (PKU) can be prevented if dietary treatment is implemented at birth." | ( Griffiths, P; Harvie, A; Paterson, L, 1995) |
| "Patients with classic phenylketonuria were identified by newborn screening and began treatment shortly thereafter." | ( Azen, C; Fishler, K; Friedman, E; Koch, R; Wenz, E, 1996) |
| "Eight adult, untreated patients with classical phenylketonuria received L-dopa and a decarboxylase inhibitor for 2 weeks." | ( Colombo, JP; Fünders, B; Oberwittler, C; Pietsch, M; Ullrich, K; von Eckardstein, H; Weglage, J, 1996) |
| "experimental diabetes and early-treated phenylketonuria (PKU) model] have shown that reduced tyrosine levels in brain can affect markedly the physiology and functions of these DA neurons." | ( Roth, RH; Tam, SY, 1997) |
| "The results suggested that medium-term hyperphenylalaninaemia in treated PKU is not harmful to psychological functioning in older children and adolescents who have been continuously treated up to and beyond age 10 years, though the susceptibility of executive functions needs to be further researched." | ( Cockburn, F; Griffiths, P; Harvie, A; Ward, N, 1998) |
| "Conventional treatment of BH4 deficiency, i." | ( Bieglmayer, C; Birnbacher, R; Blau, N; Frisch, H; Scheibenreiter, S; Waldhauser, F, 1998) |
| "Retardation can be prevented if phenylketonuria is diagnosed in the first three weeks of infancy and dietary treatment started straightaway." | ( Start, K, 1998) |
| "Treatment of hyperphenylalaninaemias due to phenylalanine hydroxylase deficiency with a low phenylalanine (Phe) diet is highly successful in preventing neurological impairment and mental retardation." | ( Bremer, HJ; Bührdel, P; Burgard, P; Clemens, PC; Mönch, E; Przyrembel, H; Trefz, FK; Ullrich, K, 1999) |
| "Children with phenylketonuria (PKU) are treated with semisynthetic diets restricted in phenylalanine (PHE)." | ( Da Silva-Femandes, ME; Fisberg, M; Fisberg, RM; Schmidt, BJ, 1999) |
| "The prognosis for patients with phenylketonuria (PKU) has improved greatly with early institution of treatment after birth." | ( de Sonneville, LM; de Valk, HW; Duran, M; Erkelens, DW; Poll-The, BT, 2000) |
| "Early and continuous treatment of phenylketonuria does not necessarily lead to normalisation of overall IQ." | ( Davidson, DC; Demellweek, C; Fay, N; Griffiths, PV; Robinson, PH, 2000) |
| "Patients treated for maternal phenylketonuria were excluded." | ( Poustie, VJ; Rutherford, P, 2000) |
| "Even early-treated patients with phenylketonuria (PKU) have a higher risk of psychosocial maladjustment." | ( Denecke, J; Feldmann, R; Grenzebach, M; Koch, HG; Linnenbank, R; Pietsch, M; Weglage, J, 2000) |
| "Thus, in late treated patients with phenylketonuria, in addition to the quality and duration of treatment, the outcome is mainly influenced by the age of starting treatment and also by the intellectual status of the patient." | ( Cipcic-Schmidt, S; Koch, R; Trefz, FK, 2000) |
| "Treatment of phenylketonuria (PKU) consists of restriction of natural protein and provision of a protein substitute that lacks phenylalanine but is enriched in tyrosine." | ( Bekhof, J; Koch, R; Smit, PG; van Rijn, M; van Spronsen, FJ, 2001) |
| "Because of a possible late-onset phenylketonuria, Phe levels of untreated patients should be monitored carefully at least during the first year of life." | ( Denecke, J; Feldmann, R; Guldberg, P; Güttler, F; Harms, E; Hoffmann, G; Koch, HG; Möller, H; Muntau-Heger, A; Pietsch, M; Ullrich, K; Weglage, J; Wendel, U; Zschocke, J, 2001) |
| "The patients with BH4 deficiency and their parents were asked to undergo the gene mutation analysis and the patients were treated and followed up." | ( Chen, R; Gu, X; Huang, X; Liu, X; Ma, X; Ye, J; Zhang, Y, 2001) |
| "The most common forms of BH4 deficiency are 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency (MIM 261640) and dihydropteridine reductase (DHPR) deficiency (MIM 261630), which require a different treatment from classical HPA." | ( Chiang, SH; Hsiao, KJ; Liu, TT; Wu, SJ, 2001) |
| "Although untreated phenylketonuria is typically associated with severe neurological dysfunction beginning in early childhood, this case shows that disability may be delayed until adulthood." | ( Jinnah, HA; Kasim, S; Moo, LR; Zschocke, J, 2001) |
| "Patients with BH4 deficiency should be treated early with BH4 and a combination of neurotransmitter precursors." | ( Chen, R; Gu, X; Huang, X; Liu, X; Ma, X; Ye, J; Zhang, Y, 2002) |
| "In contrast to patients with classical phenylketonuria, these patients respond to BH(4) loading tests (20mg/kg) with decrease of plasma phenylalanine levels 4 and 8 h after administration and they can be treated with BH(4) monotherapy." | ( Bernegger, C; Blau, N, 2002) |
| "However, early treated children with phenylketonuria are found to have more emotional and behavioral problems." | ( Bieliauskaite, R; Cimbalistiene, L; Jusiene, R, 2002) |
| "Six subjects with classical phenylketonuria (PKU) were treated with large neutral amino acid supplements (PreKUnil, Nilab, Dk) at 0." | ( Koch, R; Moats, RA; Moseley, KD; Nelson, M; Yano, S, 2003) |
| "Treatment of phenylketonuria (PKU) patients consists of a phenylalanine-restricted diet supplemented with a tyrosine-, vitamin- and oligoelement-enriched amino-acid mixture." | ( Artuch, R; Brandi, N; Campistol, J; Colomé, C; Lambruschini, N; Sierra, C; Vilaseca, MA, 2003) |
| "The treatment of phenylketonuria (PKU) in children and adults has been difficult because of erosion of dietary adherence, leading to poor school performance, impairment of executive functioning, loss of IQ, and deterioration of white matter in the brain." | ( Ezell, E; Jinga, W; Matalon, KM; Matalon, R; Quast, M; Surendran, S; Szucs, S; Tyring, S, 2003) |
| "Classical phenylketonuria (PKU) is an inborn error of metabolism characterized by high Phenylalanine (Phe) levels in blood and treated with a special low Phe diet which can be defined as "nonatherogenic"." | ( Bartzeliotou, A; Karakonstantakis, T; Karikas, GA; Papassotiriou, I; Schulpis, KH, 2004) |
| "About two-thirds of all mild phenylketonuria (PKU) patients are tetrahydrobiopterin (BH4)-responsive and thus can be potentially treated with BH4 instead of a low-phenylalanine diet." | ( Blau, N; Erlandsen, H, 2004) |
| "The treatment for phenylketonuria (PKU) includes monitoring blood phenylalanine (Phe) levels on a regular basis." | ( Allard, P; Ampola, MG; Cowell, LD; Korson, MS; Zytkovicz, TH, 2004) |
| "Adult subjects with classical phenylketonuria (PKU) who were diagnosed and treated neonatally participated in this long-term follow-up study." | ( Azen, C; Broomand, C; Brumm, VL; Koch, R; Moats, RA; Nelson, MD; Stern, AM, 2004) |
| "This disorder, known as phenylketonuria, produces profound mental retardation if not detected and treated early in life." | ( Chace, DH; Kalas, TA, 2005) |
| "The patients with BH(4) responsive PAH deficiency were treated with BH(4) tablets (10 - 20 mg/kg x d) under normal diet for 6 to 7 days." | ( Gu, XF; Han, LS; Qiu, WJ; Ye, J; Zhang, ZX, 2005) |
| "(3) Six patients with BH(4) responsive PAH deficiency were treated with BH(4) for 6 to 7 days, 4 patients had a normal phenylalanine concentration after 10 mg/kg BH(4) supplement, while other 2 patients needed a treatment of BH(4) at 20 mg/kg." | ( Gu, XF; Han, LS; Qiu, WJ; Ye, J; Zhang, ZX, 2005) |
| "BH(4) responsive PAH deficiency patient could be treated with BH(4) to replace low-phenylalanine diet treatment totally or partially, which may provide an optional treatment for the disease and improve the quality of life of the patients." | ( Gu, XF; Han, LS; Qiu, WJ; Ye, J; Zhang, ZX, 2005) |
| "In 31 patients with early treated phenylketonuria and in 27 healthy volunteers, we acquired volumetric MR imaging data." | ( Hähnel, S; Jost, G; Kress, B; Magnotta, VA; Mohr, A; Pfaendner, NH; Pietz, J; Rating, D; Reuner, G; Sartor, K, 2005) |
| "Classic phenylketonuria (PKU), an inborn error of phenylalanine (Phe) metabolism, results in a reduction of catecholamine biosynthesis and requires treatment with lifelong low-Phe diet to prevent mental dysfunction and allow proper intellectual development." | ( Chrousos, GP; Papassotiriou, I; Schulpis, KH; Tsakiris, S; Vounatsou, M, 2005) |
| "Treated phenylketonuria (PKU) has been linked to dopaminergic depletion in the dorsolateral prefrontal cortex, potentially leading to selective executive impairment." | ( Channon, S; Lee, P; Mockler, C, 2005) |
| "Classic phenylketonuria (PKU) is characterized by severe mental retardation in untreated individuals and mild neurocognitive abnormalities in some early treated adults." | ( Buchsbaum, MS; Sansaricq, C; Snyderman, SE; Wasserstein, MP, 2006) |
| "Thirty-two patients with phenylalanine hydroxylase deficiency (21 with early and 11 with late diagnosis and treatment) and 30 healthy controls underwent an integrated clinical, neuroimaging (3." | ( Antonozzi, I; Artiola, C; Burroni, M; Carducci, C; Carnevale, F; Chiarotti, F; D'Alesio, V; Giannatempo, GM; Leuzzi, V; Montanaro, D; Popolizio, T; Scarabino, T; Tosetti, M, 2007) |
| "The metabolic disorder phenylketonuria (PKU) is treated early by a low-phenylalanine diet." | ( Arthur, M; Burnett, JR; Bynevelt, M; Fox, AM; Moyle, JJ, 2007) |
| "In some patients with phenylketonuria who are responsive to BH4, sapropterin treatment to reduce blood phenylalanine could be used as an adjunct to a restrictive low-phenylalanine diet, and might even replace the diet in some instances." | ( Bebchuk, JD; Chakrapani, A; Christ-Schmidt, H; Cleary, M; Dorenbaum, A; Feigenbaum, AS; Feillet, F; Lee, P; Levy, HL; Milanowski, A; Trefz, FK; Whitley, CB, 2007) |
| "Some individuals with phenylketonuria (PKU) respond to pharmacologic treatment with tetrahydrobiopterin (BH(4)) by a reduction in the blood phenylalanine concentration." | ( Burton, B; Cederbaum, S; Levy, H; Scriver, C, 2007) |
| "Metabolic control in phenylketonuria (PKU) may be influenced by parental ability because dietary treatment involves complex food choices." | ( Asplin, D; Chakrapani, A; Daly, A; Davies, P; Hall, SK; Hendriksz, C; Hopkins, V; Macdonald, A, 2008) |
| "Untreated phenylketonuria is characterized by neurocognitive and neuromotor impairment, which result from elevated blood phenylalanine concentrations." | ( Clarke, L; Dorenbaum, A; Feillet, F; Foehr, E; Giovannini, M; Green, B; Harmatz, P; Lipson, M; Meli, C; Morris, AA; Mould, DR, 2008) |
| "Some people with phenylketonuria who were born before screening began were never treated and are still alive." | ( Amos, A; Fitzgerald, B; Hoskin, R; Johnson, SM; Lee, P; Lilburn, M; Murphy, GH; Robertson, L; Weetch, E, 2008) |
| "The clinical severity of phenylalanine hydroxylase deficiency is usually defined by either pre-treatment phenylalanine (Phe) concentration or Phe tolerance at 5 years of age." | ( Bosch, AM; de Klerk, JB; de Koning, T; de Vries, M; Dorgelo, B; Hoeksma, M; Mulder, MF; Rubio-Gozalbo, ME; van Rijn, M; van Spronsen, FJ; Verkerk, PH, 2009) |
| "The aim of treatment in phenylketonuria might be to normalize cerebral concentrations of all large neutral amino acids rather than prevent high cerebral phenylalanine concentrations alone." | ( Hoeksma, M; Reijngoud, DJ; van Spronsen, FJ, 2009) |
| "Left untreated, phenylketonuria biochemically results in high phenylalanine concentrations in blood and tissues, and clinically especially in severe mental retardation." | ( de Valk, HW; Hoeksma, M; Paans, AM; Pruim, J; Reijngoud, DJ; van Spronsen, FJ, 2009) |
| "Studies using phenylketonuria model mice will be important in determining the ability of our therapy to prevent the teratogenic effects of elevated maternal Phe in maternal phenylketonuria." | ( Hunter, SK; Santillan, DA; Santillan, MK, 2009) |
| "Lifelong treatment of phenylketonuria (PKU) includes a phenylalanine (phe) restricted diet that provides sufficient phe for growth and maintenance plus phe-free amino acid formula to meet requirements for protein, energy and micronutrients." | ( Gleason, ST; MacLeod, EL; Ney, DM; van Calcar, SC, 2009) |
| "At the Kennedy Centre for Phenylketonuria, Denmark, large neutral amino acids (LNAAs) are being used to treat adult and adolescent patients who are nonadherent to dietary treatment for phenylketonuria (PKU)." | ( Ahring, KK, 2010) |
| "People treated for maternal phenylketonuria were excluded." | ( Webster, D; Wildgoose, J, 2010) |
| "The main debate in the treatment of Phenylketonuria (PKU) is whether adult patients need the strict phenylalanine (Phe)-restricted diet." | ( Bosch, AM; de Sonneville, LM; Francois, B; Hollak, CE; Janssen, MC; Rubio-Gozalbo, ME; ten Hoedt, AE; ter Horst, NM; Wijburg, FA, 2011) |
| "One of the issues to be resolved in phenylketonuria is whether patients with mild hyperphenylalaninemia need treatment, or in other words, in what patients treatment needs to be started." | ( van Spronsen, FJ, 2011) |
| "The usual treatment for phenylketonuria (PKU) is a phenylalanine-restricted diet." | ( Ahring, K; Bélanger-Quintana, A; Dokoupil, K; Gokmen-Ozel, H; Lammardo, AM; MacDonald, A; Motzfeldt, K; Robert, M; Rocha, JC; van Rijn, M, 2011) |
| "To determine the percentage of phenylketonuria (PKU) subjects using current treatment strategies whose phenylalanine (Phe) concentrations diverge from the UK target guidelines for PKU." | ( Chauhan, D; Macdonald, A; Nanuwa, K; Nathan, M; Parkes, L, 2011) |
| "Patients with treated phenylketonuria (PKU) can have subtle deficits in intellect, academic skills, and executive functioning." | ( Cantor, NL; Ernst, SL; Furtado, LV; Longo, N; Viau, KS; Wengreen, HJ, 2011) |
| "The treatment of phenylketonuria (PKU) requires consistent restriction of protein intake from natural sources." | ( Beblo, S; Ceglarek, U; Kiess, W; Mütze, U; Rohde, C; Thiery, J; Weigel, JF, 2012) |
| "One condition, phenylketonuria (PKU), is an inborn error of metabolism (IEM) which results in intellectual disability unless treated with a lifelong phenylalanine (Phe) restricted diet." | ( Herle, M; Ipsiroglu, OS; Moeslinger, D; Stockler, S; Wimmer, B, 2012) |
| "Tetrahydrobiopterin (BH(4))-sensitive phenylketonuria (PKU) can be treated with sapropterin dihydrochloride." | ( Beblo, S; Ceglarek, U; Kiess, W; Mütze, U; Rohde, C; Thiele, A; Thiery, J; Weigel, J; Ziesch, B, 2012) |
| "Until today, the mainstay of phenylketonuria (PKU) treatment is a phenylalanine (Phe)-restricted diet." | ( Baumgartner, MR; Blau, N; Fingerhut, R; Jacobs, P; Rohrbach, M; Thöny, B; Torresani, T; Zimmermann, M, 2012) |
| "The primary treatment for phenylketonuria (PKU) is a low phenylalanine diet together with an amino acid-based, phenylalanine-free formula." | ( Burrage, LC; Haesler, R; Kerr, DS; McCandless, SE; McConnell, J; O'Riordan, MA; Sutton, VR, 2012) |
| "Whereas the impact of early-treated phenylketonuria (ETPKU) on cortical white matter is well documented, relatively little is known regarding the potential impact of this metabolic disorder on deep gray matter structures such as the basal ganglia." | ( Aldridge, K; Bodner, KE; Christ, SE; Moffitt, AJ; Peck, D; White, DA, 2012) |
| "In about 20%-30% of phenylketonuria (PKU) patients (all phenotypes of PAH deficiency), Phe levels may be controlled through phenylalanine hydroxylase cofactor tetrahydrobiopterin therapy." | ( Blau, N; Cotton, RG; Heintz, C, 2013) |
| "People treated for maternal phenylketonuria were excluded." | ( Webster, D; Wildgoose, J, 2013) |
| "Treatment of phenylketonuria based upon strict vegetarian diets, with very low phenylalanine intake and supplemented by phenylalanine-free formula, has proven to be effective in preventing the development of long-term neurological sequelae due to phenylalanine accumulation." | ( Alcalde, C; Aldámiz-Echevarría, L; Andrade, F; Blasco, J; Bueno, MA; Couce, ML; Dalmau, J; García, MC; Gil, D; González, D; González-Lamuño, D; Lage, S; Llarena, M; Ruiz, M; Ruiz, MA; Sánchez-Valverde, F; Vitoria, I, 2013) |
| "Patients affected by Phenylketonuria (PKU) require lifelong management based on phenylalanine (Phe) and tyrosine (Tyr) restricted intake or tetrahydrobiopterin (BH4) administration." | ( Ingenito, L; Parenti, G; Pecce, R; Ruoppolo, M; Scolamiero, E, 2013) |
| "Treating phenylketonuria based upon strict vegetarian diets has occasionally been found to hamper physical development, some patients presenting with growth retardation and malnutrition." | ( Alcalde, C; Aldámiz-Echevarría, L; Andrade, F; Blasco, J; Bueno, MA; Couce, ML; Dalmau, J; García, MC; Gil, D; González, D; González-Lamuño, D; Lage, S; Peña-Quintana, L; Ruiz, M; Ruiz, MA; Sánchez-Valverde, F; Vitoria, I, 2014) |
| "However, patients with mild or classical phenylketonuria who require continuous treatment accounted for 11." | ( Bik-Multanowski, M; Chrobot, A; Cichy, W; Didycz, B; Gizewska, M; Kaluzny, L; Lange, A; Mikoluc, B; Mozrzymas, R; Oltarzewski, M; Pietrzyk, JJ; Starostecka, E; Szymczakiewicz-Multanowska, A; Ulewicz-Filipowicz, J, 2013) |
| "Above all, treatment of phenylalanine hydroxylase deficiency must be life long, with a goal of maintaining blood phenylalanine in the range of 120-360 µmol/l." | ( Andersson, HC; Antshel, KM; Berry, SA; Braverman, NE; Burton, BK; Frazier, DM; Mitchell, J; Smith, WE; Thompson, BH; Vockley, J, 2014) |
| "Ten adult individuals with phenylketonuria participated in a randomized, double-blind, placebo-controlled cross-over study consisting of three 3-week phases: washout, treatment with LNAA tablets plus supplementation with either Trp and Tyr tablets or placebo, and LNAA tablets plus the alternate supplementation." | ( Azen, C; Moseley, K; Yano, S, 2014) |
| "The patients with BH4 deficiency were treated with BH4 and neurotransmitter after diagnosis." | ( Cao, Z; Han, B; Liu, Y; Zhu, W; Zou, H, 2015) |
| "Untreated phenylketonuria (PKU), a hereditary metabolic disorder caused by a genetic mutation in phenylalanine hydroxylase (PAH), is characterized by elevated blood phenylalanine (Phe) and severe neurologic disease." | ( Merilainen, M; Mould, DR; Musson, DG; Qi, Y; Zhou, H, 2015) |
| "Neonatal screening and treatment of phenylketonuria (PKU) prevent the development of neurocognitive impairment." | ( Christ, E; Gautschi, M; Nuoffer, JM; Pers, S; Schwarz, HP, 2014) |
| "Standard therapy for phenylketonuria (PKU), the most common inherited disorder in amino acid metabolism, is an onerous phenylalanine-restricted diet." | ( Blau, N; Longo, N, 2015) |
| "Monitoring of L-dopa therapy in BH4 deficiency is generally based upon clinical observation and periodical measurement of homovanillic acid (HVA) concentration in the cerebrospinal fluid (CSF)." | ( Ponzone, A; Porta, F; Spada, M, 2015) |
| "We conclude that phenylketonuria patients might be at risk for atherosclerosis, and therefore screening for atherosclerotic risk factors should be included in the phenylketonuria therapy and follow-up in addition to other parameters." | ( Arslan, N; Çakar, S; Gündüz, M; Kuyum, P; Makay, B, 2016) |
| "To avoid potentially severe outcomes, phenylketonuria (PKU) must be detected as soon as possible after birth and managed with life-long treatment." | ( Bélanger-Quintana, A; Blau, N; Burlina, A; Cleary, M; Coşkun, T; Feillet, F; Giżewska, M; MacDonald, A; Muntau, AC; Trefz, FK; van Spronsen, FJ, 2016) |
| "Phenylalanine hydroxylase deficient phenylketonuria (PKU) is the paradigm for a treatable inborn error of metabolism where maintaining plasma phenylalanine (Phe) in the therapeutic range relates to improved clinical outcomes." | ( Biery, A; Dobrowolski, SF; Lyons-Weiler, J; Skvorak, K; Spridik, K; Vockley, J, 2016) |
| "Early treatment of phenylketonuria (ET-PKU) prevents mental retardation, but many patients still show cognitive and mood problems." | ( Bosch, AM; Brouwers, MCGJ; de Sonneville, LMJ; de Vries, MC; Hofstede, FC; Hollak, CEM; Huijbregts, SCJ; Jahja, R; Janssen, MCH; Langendonk, JG; Rubio-Gozalbo, ME; van der Meere, JJ; van der Ploeg, AT; van Spronsen, FJ, 2016) |
| "The mainstay of treating patients with phenylketonuria (PKU) is based on a Phe-restricted diet, restrictive in natural protein combined with Phe-free L-amino acid supplements and low protein foods." | ( Aldámiz-Echevarría, L; Couce, ML; Fernández-Marmiesse, A; Hermida, A; Leis, R; Llarena, M; Roca, I; Sánchez-Pintos, P; Vitoria, I, 2016) |
| "The mainstay of therapy for phenylketonuria (PKU) remains dietary protein restriction." | ( Arning, E; Bottiglieri, T; Gibson, KM; Vogel, KR, 2017) |
| "Assess current management practices of phenylketonuria (PKU) clinics across the United States (US) based on the key treatment metrics of blood phenylalanine (Phe) concentrations and blood Phe testing frequency, as well as patient adherence to their clinic's management practice recommendations." | ( Cederbaum, S; Cohen-Pfeffer, JL; Jurecki, ER; Kopesky, J; Perry, K; Rohr, F; Sanchez-Valle, A; Sheinin, MY; Viau, KS, 2017) |
| "Despite early dietary treatment phenylketonuria patients have lower IQ and poorer executive functions compared to healthy controls." | ( Bosch, AM; Brouwers, MCGJ; de Sonneville, LMJ; de Vries, MC; Hofstede, FC; Hollak, CEM; Huijbregts, SCJ; Jahja, R; Janssen, MCH; Langendonk, JG; Legemaat, AM; Rubio-Gozalbo, ME; van der Meere, JJ; van der Ploeg, AT; van Spronsen, FJ, 2017) |
| "Although with early treatment phenylketonuria patients may have average intelligence levels, it is important to optimize the nutritional management to maintain adequate phenylalanine levels, so that patients can develop their intellectal potential free of abnormalities in their daily activities due to deficits of cognitive executive functions." | ( Alcalde Martín, C; Conde-Guzon, MJ; Conde-Guzon, P; González García, MB; Velasco Zúñiga, R, 2017) |
| "Molecular characterization of PAH deficiency has been proven essential in establishing treatment options." | ( Gu, X; Han, L; Liang, L; Qiu, W; Ye, J; Zhang, H; Zhu, T, 2017) |
| "The patient had been diagnosed with phenylketonuria (PKU) in newborn screening and has been treated with a low phenylalanine diet and amino acid supplements." | ( Endmann, M; Hofmann, T; Rust, S; Rutsch, F; Sass, JO; Schwade, JN, 2017) |
| "Early dietary treatment of phenylketonuria (PKU), an inborn error of phenylalanine (Phe) metabolism, results in normal cognitive development." | ( Carvalho, LM; Maia, HS; Monteiro, CB; Ribeiro, MG; Schwartz, IVD; Tonon, T; Vanz, AP; Vieira, E, 2017) |
| "Untreated phenylketonuria (PKU) results in severe neurodevelopmental disorders, which can be partially prevented by an early and rigorous limitation of phenylalanine (Phe) intake." | ( Bigini, N; Cabib, S; Carducci, C; Colamartino, M; Gabucci, C; Leuzzi, V; Magnani, M; Pascucci, T; Pierigè, F; Puglisi-Allegra, S; Rossi, L; Sasso, V; Valzania, A; Ventura, R; Viscomi, MT, 2018) |
| "Treatment of phenylketonuria (PKU) with sapropterin dihydrochloride in responsive patients from an early age can have many advantages for the patient over dietary restriction alone." | ( du Moulin, M; Feillet, F; Muntau, AC, 2018) |
| "In the treatment of phenylketonuria (PKU), there was disparity between UK dietitians regarding interpretation of how different foods should be allocated in a low phenylalanine diet (allowed without measurement, not allowed, or allowed as part of phenylalanine exchanges)." | ( Adam, S; Adams, S; Ash, J; Ashmore, C; Caine, G; Carruthers, R; Cawtherley, S; Chahal, S; Clark, A; Cochrane, B; Daly, A; Dines, K; Dixon, M; Dunlop, C; Ellerton, C; Evans, S; Ford, S; French, M; Gaff, L; Gingell, C; Green, D; Gribben, J; Grimsley, A; Hallam, P; Hendroff, U; Hill, M; Hoban, R; Howe, S; Hunjan, I; Kaalund, K; Kelleher, E; Khan, F; Kitchen, S; Lang, K; Lowry, S; MacDonald, A; Males, J; Martin, G; McStravick, N; Micciche, A; Newby, C; Nicol, C; Pereira, R; Robertson, L; Ross, K; Simpson, E; Singleton, K; Skeath, R; Stafford, J; Terry, A; Thom, R; Tooke, A; vanWyk, K; White, F; White, L, 2019) |
| "Background Phenylketonuria (PKU), a rare, inherited metabolic condition, is treated with a strict low-phenylalanine (Phe) diet, supplemented with Phe-free protein substitute." | ( Ahring, K; Almeida, MF; Bélanger-Quintana, A; Dokoupil, K; Gökmen-Özel, H; Harbage, E; Heidenborg, C; MacDonald, A; Robert, M; Rocha, JC; van Dam, E, 2019) |
| "The standard, lifelong therapy of phenylketonuria (PKU) is a natural protein-restricted diet complemented with phenylalanine (Phe)-free L-amino acid mixtures that provide the daily necessary micronutrients." | ( Galgoczi, E; Kiss, E; Kovacs, B; Nagy, EV; Patocs, A; Reismann, P; Simon, E; Soos, A; Sumanszki, C, 2019) |
| "Recent approaches for treating phenylketonuria focus on injectable medications that efficiently break down phenylalanine but sometimes result in detrimentally low phenylalanine levels." | ( Andrews, AM; Cheung, KM; Jung, ME; Nakatsuka, N; Stojanović, MN; Weiss, PS; Yang, H; Yang, KA; Ye, M; Zhao, C, 2019) |
| "The gold standard treatment for phenylketonuria (PKU) is a lifelong low-phenylalanine (Phe) diet supplemented with Phe-free protein substitutes." | ( Burlina, AB; Burlina, AP; Cazzorla, C; Gueraldi, D; Loro, C; Massa, P, 2020) |
| "Differently from BH4 deficiency, BH4 administration in DNAJC12 deficiency does not firmly enhance the rate of Phe hydroxylation." | ( Ponzone, A; Porta, F; Spada, M, 2020) |
| "People treated for maternal phenylketonuria were excluded." | ( Remmington, T; Smith, S, 2021) |
| "The traditional treatment for phenylketonuria (PKU) is a phenylalanine (Phe)-restricted diet, supplemented with a Phe-free/low-Phe protein substitute." | ( Gökmen-Özel, H; Ilgaz, F; Karabulut, E; Kuhn, M; MacDonald, A; Marsaux, C; Pinto, A; Rohde, C; Singh, R, 2021) |
| "Even though PAH deficiency is the most common defect of amino acid metabolism in humans, brain dysfunction in individuals with PKU is still not well understood and further research is needed to facilitate development of pathophysiology-driven treatments." | ( Blau, N; Bosch, AM; Burlina, A; Harding, C; Longo, N; van Spronsen, FJ, 2021) |
| "Although the BH4 deficiency outcomes are highly variable, early diagnosis and treatment in the first months of life are crucial for good outcomes." | ( Alaei, M; Barzegari, M; Esmaeilizadeh, Z; Farsian, P; Khani, S; Khatami, S; Mirzazadeh, R; Rohani, F; Sadeghi, S; Salehpour, S; Samavat, A; Setoodeh, A; Zekri, A, 2021) |
| "The mainstay of phenylketonuria treatment is a low protein diet, supplemented with phenylalanine (Phe)-free protein substitutes and micronutrients." | ( Albano, L; Concolino, D; Crisci, D; Esposito, G; Ferraro, S; Nastasi, A; Parenti, G; Ruoppolo, M; Scala, I; Sestito, S; Strisciuglio, P, 2021) |
| "Patients with phenylketonuria (PKU), an inborn error of phenylalanine metabolism, require consistent treatment to avoid the brain toxicity caused by hyperphenylalaninemia." | ( Bik-Multanowska, K; Bik-Multanowski, M; Didycz, B, 2022) |
| "Untreated PKU, also known as PAH deficiency, results in severe and irreversible intellectual disability, epilepsy, behavioral disorders, and clinical features such as acquired microcephaly, seizures, psychological signs, and generalized hypopigmentation of skin (including hair and eyes)." | ( Abumansour, IS; AlJahdali, IA; Aljohani, F; Alosaimi, W; Alzahrani, A; Dandini, M; Elhawary, EN; Elhawary, NA; Gaboon, N; Kensara, OA; Madkhali, A; Melibary, EM, 2022) |
| "Untreated phenylketonuria (PKU) patients and PKU animal models show hypomyelination in the central nervous system and white matter damages, which are accompanied by myelin basic protein (MBP) impairment." | ( Biagiotti, S; Biancucci, F; Bregalda, A; Carducci, C; Leuzzi, V; Magnani, M; Menotta, M; Pascucci, T; Pierigè, F; Rossi, L; Viscomi, MT, 2023) |