-
1
-
-
34447550340
-
BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor
-
Aguado C, Perez B, Garcia MJ, Belanger-Quintana A, Martinez-Pardo M, Ugarte M, Desviat LR (2007) BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor. Clin Chim Acta 380(1–2): 8–12
-
(2007)
Clin Chim Acta
, vol.380
, Issue.1-2
, pp. 8-12
-
-
Aguado, C.1
Perez, B.2
Garcia, M.J.3
Belanger-Quintana, A.4
Martinez-Pardo, M.5
Ugarte, M.6
Desviat, L.R.7
-
2
-
-
61849144356
-
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria
-
Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen FJ (2009) Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. Mol Genet Metab 96(4):158–163
-
(2009)
Mol Genet Metab
, vol.96
, Issue.4
, pp. 158-163
-
-
Blau, N.1
Bélanger-Quintana, A.2
Demirkol, M.3
Feillet, F.4
Giovannini, M.5
Macdonald, A.6
Trefz, F.K.7
van Spronsen, F.J.8
-
3
-
-
0033911995
-
Phenotypes of patients with “simple” Mendelian disorders are complex traits: Thresholds, modifiers and system dynamics
-
Dipple KM, McCabe ER (2000) Phenotypes of patients with “simple” Mendelian disorders are complex traits: thresholds, modifiers and system dynamics. Am J Hum Genet 66:1729–1735
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1729-1735
-
-
Dipple, K.M.1
McCabe, E.R.2
-
4
-
-
78651445905
-
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population
-
Dobrowolski SF, Heintz C, Miller T et al (2011) Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population. Mol Genet Metab 102(2):116–121
-
(2011)
Mol Genet Metab
, vol.102
, Issue.2
, pp. 116-121
-
-
Dobrowolski, S.F.1
Heintz, C.2
Miller, T.3
-
5
-
-
0027209388
-
Restriction enzyme-based assays for complete genotyping of phenylketonuria patients
-
Eiken HG, Knappskog PM, Apold J (1993) Restriction enzyme-based assays for complete genotyping of phenylketonuria patients. Dev Brain Dysfunct 6:53–59
-
(1993)
Dev Brain Dysfunct
, vol.6
, pp. 53-59
-
-
Eiken, H.G.1
Knappskog, P.M.2
Apold, J.3
-
6
-
-
10044279157
-
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations
-
Erlandsen H, Pey AL, Gamez A et al (2004) Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proc Natl Acad Sci USA 101:16903–16908
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 16903-16908
-
-
Erlandsen, H.1
Pey, A.L.2
Gamez, A.3
-
7
-
-
79957575438
-
Nutrigenetics and nutrigenomics: Viewpoints on the current status and applications in nutrition research and practice
-
Fenech M, El-Sohemy A, Cahill L et al (2011) Nutrigenetics and nutrigenomics: viewpoints on the current status and applications in nutrition research and practice. J Nutrigenet Nutrigenomics 4:69–89
-
(2011)
J Nutrigenet Nutrigenomics
, vol.4
, pp. 69-89
-
-
Fenech, M.1
El-Sohemy, A.2
Cahill, L.3
-
8
-
-
18444412554
-
Genetic heterogeneity in five Italian regions: Analysis of PAH mutations and minihaplotypes
-
Giannattasio S, Dianzani I, Lattanzio P et al (2001) Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes. Hum Hered 52(3):154–159
-
(2001)
Hum Hered
, vol.52
, Issue.3
, pp. 154-159
-
-
Giannattasio, S.1
Dianzani, I.2
Lattanzio, P.3
-
9
-
-
84860920258
-
Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene
-
Groselj U, Tansek MZ, Kovac J, Hovnik T, Podkrajsek KT, Battelino T (2012) Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene. Mol Genet Metab 106(2):142–148
-
(2012)
Mol Genet Metab
, vol.106
, Issue.2
, pp. 142-148
-
-
Groselj, U.1
Tansek, M.Z.2
Kovac, J.3
Hovnik, T.4
Podkrajsek, K.T.5
Battelino, T.6
-
10
-
-
0033827249
-
Mutation analysis anticipates dietary requirements in phenylketonuria
-
Guttler F, Guldberg P (2000) Mutation analysis anticipates dietary requirements in phenylketonuria. Eur J Pediatr 159:S150–S153
-
(2000)
Eur J Pediatr
, vol.159
, pp. S150-S153
-
-
Guttler, F.1
Guldberg, P.2
-
11
-
-
0028217614
-
“Broad-range” DGGE for single-step mutation scanning of entire genes: The human phenylalanine hydroxylase gene
-
Guldberg P, Guttler F (1994) “Broad-range” DGGE for single-step mutation scanning of entire genes: the human phenylalanine hydroxylase gene. Nucleic Acids Res 22(5):880–881
-
(1994)
Nucleic Acids Res
, vol.22
, Issue.5
, pp. 880-881
-
-
Guldberg, P.1
Guttler, F.2
-
12
-
-
0032231461
-
A European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype
-
Guldberg P, Rey F, Zschocke J et al (1998) A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet 63:71–79
-
(1998)
Am J Hum Genet
, vol.63
, pp. 71-79
-
-
Guldberg, P.1
Rey, F.2
Zschocke, J.3
-
13
-
-
67349161346
-
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency
-
Karacic I, Meili D, Sarnavka V et al (2009) Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. Mol Genet Metab 97(3):165–171
-
(2009)
Mol Genet Metab
, vol.97
, Issue.3
, pp. 165-171
-
-
Karacic, I.1
Meili, D.2
Sarnavka, V.3
-
14
-
-
0031472356
-
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: A metanalysis of genotype-phenotype correlations
-
Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR (1997) Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: A metanalysis of genotype-phenotype correlations. Am J Hum Genet 61:1309–1317
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1309-1317
-
-
Kayaalp, E.1
Treacy, E.2
Waters, P.J.3
Byck, S.4
Nowacki, P.5
Scriver, C.R.6
-
15
-
-
32044444061
-
Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene
-
Kim SW, Jung J, Oh HJ (2006) Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene. Clin Chim Acta 365:279–297
-
(2006)
Clin Chim Acta
, vol.365
, pp. 279-297
-
-
Kim, S.W.1
Jung, J.2
Oh, H.J.3
-
16
-
-
0025785883
-
The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria
-
Konecki DS, Schlotter M, Trefz FK, Lichter-Konecki U (1991) The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria. Hum Genet 87 (4):389–393
-
(1991)
Hum Genet
, vol.87
, Issue.4
, pp. 389-393
-
-
Konecki, D.S.1
Schlotter, M.2
Trefz, F.K.3
Lichter-Konecki, U.4
-
17
-
-
0033504353
-
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
-
Kure S, Hou DC, Ohura T et al (1999) Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr 135(3):375–378
-
(1999)
J Pediatr
, vol.135
, Issue.3
, pp. 375-378
-
-
Kure, S.1
Hou, D.C.2
Ohura, T.3
-
18
-
-
79952698283
-
Heterotetrameric forms of human phenylalanine hydroxylase: Co-expression of wild-type and mutant forms in a bicistronic system
-
Leandro J, Leandro P, Flatmark T (2011) Heterotetrameric forms of human phenylalanine hydroxylase: co-expression of wild-type and mutant forms in a bicistronic system. Biochim Biophys Acta 1812(5):602–612
-
(2011)
Biochim Biophys Acta
, vol.1812
, Issue.5
, pp. 602-612
-
-
Leandro, J.1
Leandro, P.2
Flatmark, T.3
-
19
-
-
33646078589
-
Co-expression of different subunits of human phenylalanine hydroxylase: Evidence of negative interallelic complementation
-
Leandro J, Nascimento C, de Almeida IT, Leandro P (2006) Co-expression of different subunits of human phenylalanine hydroxylase: evidence of negative interallelic complementation. Biochim Biophys Acta 1762(5):544–550
-
(2006)
Biochim Biophys Acta
, vol.1762
, Issue.5
, pp. 544-550
-
-
Leandro, J.1
Nascimento, C.2
de Almeida, I.T.3
Leandro, P.4
-
20
-
-
34547697475
-
Efficacy of sapropterin dihydrochloride (Tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: A phase III randomised placebo-controlled study
-
Levy HL, Milanowski A, Chakrapani A et al (2007a) Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet 370:504–510
-
(2007)
Lancet
, vol.370
, pp. 504-510
-
-
Levy, H.L.1
Milanowski, A.2
Chakrapani, A.3
-
21
-
-
36148953590
-
Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH (4)) in phenylketonuria and its use in treatment
-
Levy H, Burton B, Cederbaum S, Scriver C (2007b) Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH (4)) in phenylketonuria and its use in treatment. Mol Genet Metab 92:287–291
-
(2007)
Mol Genet Metab
, vol.92
, pp. 287-291
-
-
Levy, H.1
Burton, B.2
Cederbaum, S.3
Scriver, C.4
-
22
-
-
0037180758
-
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria
-
Muntau AC, Roschinger W, Habich M et al (2002) Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med 347(26):2122–2132
-
(2002)
N Engl J Med
, vol.347
, Issue.26
, pp. 2122-2132
-
-
Muntau, A.C.1
Roschinger, W.2
Habich, M.3
-
23
-
-
28844490531
-
Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients
-
Pérez B, Desviat LR, Gómez-Puertas P, Martínez A, Stevens RC, Ugarte M (2005) Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients. Mol Genet Metab 86: S11–S16
-
(2005)
Mol Genet Metab
, vol.86
, pp. S11-S16
-
-
Pérez, B.1
Desviat, L.R.2
Gómez-Puertas, P.3
Martínez, A.4
Stevens, R.C.5
Ugarte, M.6
-
24
-
-
8144220031
-
Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations
-
Pey AL, Pérez B, Desviat LR et al (2004) Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations. Hum Mutat 24(5):388–399
-
(2004)
Hum Mutat
, vol.24
, Issue.5
, pp. 388-399
-
-
Pey, A.L.1
Pérez, B.2
Desviat, L.R.3
-
25
-
-
82755189536
-
Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients
-
Rivera I, Mendes D, Afonso  et al (2011) Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients. Mol Genet Metab 104:S86–S92
-
(2011)
Mol Genet Metab
, vol.104
, pp. S86-S92
-
-
Rivera, I.1
Mendes, D.2
Afonso, Â.3
-
26
-
-
0033168957
-
Monogenic traits are not simple
-
Scriver CR, Waters PJ (1999) Monogenic traits are not simple. Trends Genet 15:267–272
-
(1999)
Trends Genet
, vol.15
, pp. 267-272
-
-
Scriver, C.R.1
Waters, P.J.2
-
27
-
-
0037240167
-
PAHdb 2003: What a locus-specific knowl-edgebase can do
-
Scriver CR et al (2003) PAHdb 2003: What a locus-specific knowl-edgebase can do. Hum Mutat 21:333–344 (http://www.pahdb. mcgill.ca)
-
(2003)
Hum Mutat
, vol.21
, pp. 333-344
-
-
Scriver, C.R.1
-
28
-
-
34848850451
-
The PAH gene, phenylketonuria, and a paradigm shift
-
Scriver CR (2007) The PAH gene, phenylketonuria, and a paradigm shift. Hum Mutat 28:831–845
-
(2007)
Hum Mutat
, vol.28
, pp. 831-845
-
-
Scriver, C.R.1
-
29
-
-
72249122858
-
Hyperphenylalaninemia: Phenylalanine hydroxylase deficiency
-
Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis S, Ballabio A (eds) Scriver CR, Childs B, Sly WS (eds emeritus), McGraw-Hill, New York. Online Chapter 77
-
Scriver CR, Levy H, Donlon J (2008) Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis S, Ballabio A (eds) Scriver CR, Childs B, Sly WS (eds emeritus) The online metabolic and molecular basis of inherited disease. McGraw-Hill, New York. Online Chapter 77 (www.ommbid.com)
-
(2008)
The Online Metabolic and Molecular Basis of Inherited Disease
-
-
Scriver, C.R.1
Levy, H.2
Donlon, J.3
-
30
-
-
79958701858
-
The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response
-
Staudigl M, Gersting SW, Danecka MK et al (2011) The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response. Hum Mol Genet 20(13):2628–2641
-
(2011)
Hum Mol Genet
, vol.20
, Issue.13
, pp. 2628-2641
-
-
Staudigl, M.1
Gersting, S.W.2
Danecka, M.K.3
-
31
-
-
84872612797
-
Prevalence of tetrahydrobiop-terine (BH4)-responsive alleles among Austrian patients with PAH deficiency: Comprehensive results from molecular analysis in 147 patients
-
Sterl E, Paul K, Paschke E, et al (2012) Prevalence of tetrahydrobiop-terine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients. J Inherit Metab Dis. doi: 10.1007/s10545-012-9485-y
-
(2012)
J Inherit Metab Dis
-
-
Sterl, E.1
Paul, K.2
Paschke, E.3
-
32
-
-
33745811686
-
Molecular and phenotypic characteristics of phenylketonuria patients in Serbia and Montenegro
-
Stojiljkovic M, Jovanovic J, Djordjevic M et al (2006) Molecular and phenotypic characteristics of phenylketonuria patients in Serbia and Montenegro. Clin Genet 70:151–155
-
(2006)
Clin Genet
, vol.70
, pp. 151-155
-
-
Stojiljkovic, M.1
Jovanovic, J.2
Djordjevic, M.3
-
33
-
-
70349467326
-
Mutations in the PAH gene: A tool for population genetic study
-
Stojiljkovic M, Stevanovic A, Djordjevic M et al (2007) Mutations in the PAH gene: a tool for population genetic study. Arch Biol Sci 59(3):161–167
-
(2007)
Arch Biol Sci
, vol.59
, Issue.3
, pp. 161-167
-
-
Stojiljkovic, M.1
Stevanovic, A.2
Djordjevic, M.3
-
34
-
-
70349462935
-
The Missense p.S231F phenylalanine hydroxylase gene mutation causes complete loss of enzymatic activity in vitro
-
Stojiljkovic M, Pérez B, Desviat LR, Aguado C, Ugarte M, Pavlovic S (2009) The Missense p.S231F phenylalanine hydroxylase gene mutation causes complete loss of enzymatic activity in vitro. Protein J 28(6):294–299
-
(2009)
Protein J
, vol.28
, Issue.6
, pp. 294-299
-
-
Stojiljkovic, M.1
Pérez, B.2
Desviat, L.R.3
Aguado, C.4
Ugarte, M.5
Pavlovic, S.6
-
35
-
-
77955664329
-
Novel transcriptional regulatory element in the phenylalanine hydroxylase gene intron 8
-
Stojiljkovic M, Zukic B, Tosic N et al (2010) Novel transcriptional regulatory element in the phenylalanine hydroxylase gene intron 8. Mol Genet Metab 101(1):81–83
-
(2010)
Mol Genet Metab
, vol.101
, Issue.1
, pp. 81-83
-
-
Stojiljkovic, M.1
Zukic, B.2
Tosic, N.3
-
36
-
-
0007908820
-
Differential diagnosis and significance of various hyperphenylalaninemias
-
Bickel H, Wachtel U (eds), Thieme, Stuttgart
-
Trefz FK, Schmidt H, Bartholome K, Mahle M, Mathis P, Pecht G (1985) Differential diagnosis and significance of various hyperphenylalaninemias. In: Bickel H, Wachtel U (eds) Inherited diseases of amino acid metabolism. Thieme, Stuttgart, pp 86–100
-
(1985)
Inherited Diseases of Amino Acid Metabolism
, pp. 86-100
-
-
Trefz, F.K.1
Schmidt, H.2
Bartholome, K.3
Mahle, M.4
Mathis, P.5
Pecht, G.6
-
37
-
-
59749092734
-
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria
-
Trefz FK, Scheible D, Gotz H, Frauendienst-Egger G (2009a) Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria. J Inherit Metab Dis 32(1):22–26
-
(2009)
J Inherit Metab Dis
, vol.32
, Issue.1
, pp. 22-26
-
-
Trefz, F.K.1
Scheible, D.2
Gotz, H.3
Frauendienst-Egger, G.4
-
38
-
-
63449107693
-
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: A phase III, randomized, double-blind, placebo-controlled study
-
Trefz FK, Burton BK, Longo N et al (2009b) Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J Pediatr 154:700–707
-
(2009)
J Pediatr
, vol.154
, pp. 700-707
-
-
Trefz, F.K.1
Burton, B.K.2
Longo, N.3
-
39
-
-
59749086069
-
Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU
-
van Sponsen FJ, van Rijn M, Dorgelo B et al (2009) Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU. J Inherit Metab Dis 32(1):27–31
-
(2009)
J Inherit Metab Dis
, vol.32
, Issue.1
, pp. 27-31
-
-
van Sponsen, F.J.1
van Rijn, M.2
Dorgelo, B.3
-
40
-
-
0031606734
-
In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function
-
Waters PJ, Parniak MA, Nowacki P, Scriver CR (1998) In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function. Hum Mutat 11(1):4–17
-
(1998)
Hum Mutat
, vol.11
, Issue.1
, pp. 4-17
-
-
Waters, P.J.1
Parniak, M.A.2
Nowacki, P.3
Scriver, C.R.4
-
41
-
-
0037237526
-
Phenylketonuria mutations in Europe
-
Zschocke J (2003) Phenylketonuria mutations in Europe. Hum Mutat 21:345–356
-
(2003)
Hum Mutat
, vol.21
, pp. 345-356
-
-
Zschocke, J.1
-
42
-
-
38149014672
-
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
-
Zurfluh MR, Zschocke J, Lindner M et al (2008) Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum Mutat 29:167–175 http://www.biopku.org
-
(2008)
Hum Mutat
, vol.29
, pp. 167-175
-
-
Zurfluh, M.R.1
Zschocke, J.2
Lindner, M.3
|