min013's pku [20 articles] Export

Recent papers added to min013's library classified by the tag pku. You can also see everyone's pku.

	CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene. [My Copy] Human mutation, Vol. 27, No. 9. (September 2006) by B. C. Murphy, C. R. Scriver, S. M. Singh posted to hpah mutation pku by min013 on 2009-02-23 08:43:08 as
	Connecting Mutant Phenylalanine Hydroxylase With Phenylketonuria [My Copy] Journal of Clinical Monitoring and Computing, Vol. 22, No. 5. (1 October 2008), pp. 333-342. by Shaomin Yan, Guang Wu posted to mutation pku by min013 on 2009-02-20 21:27:39 as
	The PAH gene, phenylketonuria, and a paradigm shift. [My Copy] Human mutation, Vol. 28, No. 9. (September 2007), pp. 831-845. by C. R. Scriver posted to pku review by min013 on 2009-02-20 17:29:08 as along with 1 person roykk80
	Cognitive deficits in a genetic mouse model of the most common biochemical cause of human mental retardation. [My Copy] The Journal of neuroscience : the official journal of the Society for Neuroscience, Vol. 19, No. 14. (15 July 1999), pp. 6175-6182. by L. Zagreda, J. Goodman, D. P. Druin, D. McDonald, A. Diamond posted to mouse pku by min013 on 2009-02-20 17:20:55 as
	Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine [My Copy] Journal of Inherited Metabolic Disease, Vol. 30, No. 2. (April 2007), pp. 153-158. by Matalon, R., Michals-Matalon, et al. K., Bhatia, G., Burlina, A., Braga, C., Fiori, L., Giovannini, M., Grechanina, E., Novikov, P., Grady, J., Tyring, S., Guttler, F. posted to pku treatment by min013 on 2009-02-20 14:23:42 as
	Progress toward cell-directed therapy for phenylketonuria [My Copy] Clinical Genetics, Vol. 74, No. 2. (August 2008), pp. 97-104. by Harding, posted to pku review by min013 on 2009-02-20 14:18:42 as along with 1 person csanford
	Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria. [My Copy] Proceedings of the National Academy of Sciences of the United States of America, Vol. 105, No. 52. (30 December 2008), pp. 20894-20899. by C. N. Sarkissian, A. Gámez, L. Wang, et al.M. Charbonneau, P. Fitzpatrick, J. F. Lemontt, B. Zhao, M. Vellard, S. M. Bell, C. Henschell, A. Lambert, L. Tsuruda, R. C. Stevens, C. R. Scriver posted to pal pku treatment by min013 on 2009-02-20 14:16:00 as
	Pharmacokinetics of Sapropterin in Patients with Phenylketonuria. [My Copy] Clinical pharmacokinetics, Vol. 47, No. 12. (2008), pp. 817-825. by François Feillet, Lorne Clarke, Concetta Meli, et al.Mark Lipson, Andrew A. Morris, Paul Harmatz, Diane R. Mould, Bruce Green, Alex Dorenbaum, Marcello Giovannini, Erik Foehr, posted to pharmacologic pku sapropterin by min013 on 2009-02-11 16:23:29 as
	Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. [My Copy] American journal of human genetics, Vol. 83, No. 1. (July 2008), pp. 5-17. by S. W. Gersting, K. F. Kemter, M. Staudigl, et al.D. D. Messing, M. K. Danecka, F. B. Lagler, C. P. Sommerhoff, A. A. Roscher, A. C. Muntau posted to mutagenesis pku by min013 on 2009-01-02 12:38:14 as
	Molecular basis for nonphenylketonuria hyperphenylalaninemia. [My Copy] Genomics, Vol. 14, No. 1. (September 1992), pp. 1-5. by E. Economou-Petersen, K. F. Henriksen, P. Guldberg, F. Güttler posted to n415d pku by min013 on 2008-11-23 19:26:44 as
	Quality of diagnostic mutation analyses for phenylketonuria [My Copy] Journal of Inherited Metabolic Disease by J. Zschocke, C. Aulehla-Scholz, S. Patton posted to pku by min013 on 2008-11-23 14:42:22 as
	Implications of resolving the diagnosis of PKU for parents and children. [My Copy] Journal of pediatric psychology, Vol. 33, No. 8. (September 2008), pp. 855-866. by B. Lord, J. Ungerer, C. Wastell posted to pku by min013 on 2008-11-18 21:30:20 as
	Tetrahydrobiopterin for patients with phenylketonuria. [My Copy] Lancet, Vol. 370, No. 9586. (11 August 2007), pp. 462-463. by A. L. Pey, A. Martinez posted to bh4 pku by min013 on 2008-11-12 19:08:03 as along with 1 person Amazoness
	Effects of tetrahydrobiopterin and phenylalanine on in vivo human phenylalanine hydroxylase by phenylalanine breath test. [My Copy] Molecular genetics and metabolism, Vol. 92, No. 4. (December 2007), pp. 308-314. by Y. Okano, K. Takatori, S. Kudo, et al.T. Sakaguchi, M. Asada, M. Kajiwara, T. Yamano posted to bh4 hpah pku by min013 on 2008-11-12 18:53:09 as
	Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria. [My Copy] The Journal of biological chemistry, Vol. 273, No. 27. (3 July 1998), pp. 16962-16967. by F. Fusetti, H. Erlandsen, T. Flatmark, R. C. Stevens posted to hpah pku structure by min013 on 2008-11-11 21:25:46 as
	Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients. [My Copy] Journal of inherited metabolic disease (21 October 2008) by S F. Dobrowolski, A L. Pey, R Koch, et al.H Levy, C C. Ellingson, E W. Naylor, A Martinez posted to hpah mutation pku by min013 on 2008-10-26 15:34:33 as
	Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria. [My Copy] The Journal of clinical investigation, Vol. 118, No. 8. (1 August 2008), pp. 2858-2867. by Angel L L. Pey, Ming Ying, Nunilo Cremades, et al.Adrian Velazquez-Campoy, Tanja Scherer, Beat Thöny, Javier Sancho, Aurora Martinez posted to chaperones pku stabilize by min013 on 2008-10-21 13:51:03 as along with 1 person TonjeC
	What we know that could influence future treatment of phenylketonuria. [My Copy] Journal of inherited metabolic disease (3 August 2008) by C N. Sarkissian, A Gámez, C R. Scriver posted to pku by min013 on 2008-08-05 12:29:59 as
	PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systems. [My Copy] Human mutation, Vol. 8, No. 3. (1996), pp. 236-246. by P. M. Knappskog, H. G. Eiken, A. Martínez, O. Bruland, J. Apold, T. Flatmark posted to hpah mutation pah pku by min013 on 2008-04-24 09:02:58 as
	The time has come: a new scene for PKU treatment. [My Copy] Genetics and molecular research : GMR, Vol. 5, No. 1. (2006), pp. 33-44. by L. L. Santos, M. d. e. . C. Magalhães, J. N. Januário, M. J. Aguiar, M. R. Carvalho posted to pku treatment by min013 on 2008-04-23 12:57:40 as

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pah	37
bacterial	29
hpah	27
pku	20
binding	17
itc	16
mutation	15
dsc	13
melanin	12
homogentisate	11
legionella	9
regulation	9
violaceum	7
aaah	6
cold-adaptation	6
evolution	6
expression	6
review	6
bacteria	5
bh4	5
paeruginosa	5
q-pcr	5
act	4
celegans	4
colwellia	4
dictyostelium	4
rat	4
structure	4
virulence	4
cdc6	3
chlamydia	3
glucokinase	3
irreversible	3
mutagenesis	3
rbs	3
rnai	3
rt-pcr	3
treatment	3
barophilic	2
biofilm	2
cd	2
cooperativity	2
deamidation	2
drosophila	2
ecoli	2
folding	2
genome	2
journal_club	2
ligand	2
l-phenylalanine	2
mammalian	2
method	2
modelling	2
pharmacologic	2
pigment	2
psycrophile	2
vibrio	2
activation	1
adaptation	1
affinity	1
afm	1
alkaptonuria	1
angel	1
antivirulence	1
ars	1
chaperones	1
cloning	1
cyanobacterium	1
dnarepair	1
dsf	1
excoefficient	1
fplc	1
fungal	1
fusion	1
gene	1
growth	1
henna	1
information	1
inhibition	1
inhibitor	1
iron	1
legiolysin	1
luddig	1
mbp	1
membranes	1
misfolding	1
molten_globule	1
monomeric	1
mosquito	1
mouse	1
mousepah	1
mutual	1
n415d	1
pal	1
phagocyte	1
phenylalanine	1
phhr	1
p-protein	1
pseudomonas	1
pyomelanin	1
rescue	1
rnase	1
sapropterin	1
solubility	1
s-oxygenation	1
sponge	1
stabilize	1
terreactant	1
tetrahydropterin	1
tetrameric	1
th	1
tyra	1
tyrr	1
vitiligo	1

min013's pku [20 articles] Export

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