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1                                              PKU mice were impaired on both odor discrimination rever
2                                              PKU mice were impaired on reversals 2, 3, and 4.
3                                              PKU produces cognitive deficits in humans if it is untre
4     PROCEDURES: Wild type (WT; Pah(+/+)) and PKU (Pah(enu2/enu2)) mice on a C57BL/6J background were
5 nt work, we generate a more potent EcN-based PKU strain through optimization of whole cell PAL activi
6         Examination of the mutations causing PKU shows that some of the most frequent mutations are l
7 global phenotype distribution of 62% classic PKU, 22% mild PKU, and 16% mild hyperphenylalaninemia.
8 ving low plasma CoQ values and being classic PKU patients.
9 tribution exists across Europe, from classic PKU in the east to mild PKU in the southwest and mild hy
10                     The frequency of classic PKU increases from Europe (56%) via Middle East (71%) to
11 over trial, 30 adult patients with classical PKU diagnosed at birth were recruited.
12 d metabolic camp intervention and to compare PKU profiles with those of matched healthy controls.
13   Phenylalanine hydroxylase (Pah)-deficient "PKU mice" have a mutation in the Pah gene that causes ph
14 he identification of two metabolic diseases (PKU and tyrosinemia) through blood analysis with minimal
15  find the water faster on day 2, pre-exposed PKU mice showed no significant benefit from their pre-ex
16 be used as a reliable translational tool for PKU preclinical research and drug development.
17  acid was recently approved as treatment for PKU patients.
18  mRNA-3210 (an investigational treatment for PKU) in murine models of each disease.
19                           As a treatment for PKU, Escherichia coli Nissle (EcN) strain SYNB1618 was d
20  that globally 0.45 million individuals have PKU, with global prevalence 1:23,930 live births (range
21 ain tissue from heterozygous and homozygous (PKU) Pah(enu2) mice.
22 ding seizures, which faithfully models human PKU.
23 -edited hepatocyte cell line and a humanized PKU mouse model, we demonstrate efficient in vitro and i
24 sing lipid nanoparticles (LNPs) in humanized PKU mice, we observe complete and durable normalization
25                                           In PKU patients, the Chi-Square test showed a significant a
26 delivery though the role of these changes in PKU pathology is currently unclear.
27 nt up-regulation of NMDA receptor density in PKU mice.
28 f patients with different IEM (especially in PKU and MPS patients, but also in IEM under protein-rest
29 d they have not been previously evaluated in PKU.
30 pected at plasma Phe levels usually found in PKU patients.
31 of hyperphenylalanemia on liver functions in PKU mice was assessed by transcriptome and proteomic ana
32 ons of L-Phe were nearly six-fold greater in PKU mice (863.12 +/- 17.96 micromol/kg) than in their he
33 omplete normalization of blood Phe levels in PKU mice, with up to 52% whole-liver corrective PAH edit
34  constitutively active enzyme, it results in PKU because of the decrease in protein stability.
35 he most frequently occurring PAH variants in PKU patients is the P281L (c.842C>T) variant.
36 pand the range of foods given to the Latvian PKU population.
37 lementation with L-tyrosine in five maternal PKU pregnancies.
38 individuals aged 0-12 years and for maternal PKU, and 120-600 mumol/L for non-pregnant individuals ol
39 to normal or above-normal values in maternal PKU pregnancies for a period of > or = 3 h by supplement
40 mino acid profile in a rat model of maternal PKU induced by DL-alpha-methylphenylalanine (AMPhe).
41 in growth observed in this model of maternal PKU.
42 g to conceive and during pregnancy (maternal PKU), untreated phenylalanine blood concentrations of mo
43 pe distribution of 62% classic PKU, 22% mild PKU, and 16% mild hyperphenylalaninemia.
44 Europe, from classic PKU in the east to mild PKU in the southwest and mild hyperphenylalaninemia in t
45 ority of patients (usually those with milder PKU), and pegylated phenylalanine ammonia lyase, which r
46 pite dietary and medical interventions, most PKU individuals harboring at least one c.1222C>T variant
47 3 umol/L (IQR: -325, -28 umol/L)] and 70% of PKU participants demonstrated improved dietary adherence
48  a poorly understood chronic complication of PKU.
49 e and weak femora, is an inherent feature of PKU.
50 nylalanine hydroxylase cDNA to the livers of PKU mice by hydrodynamic injection of plasmid DNA and sh
51 tein source in the nutritional management of PKU.
52 rst evidence that the genetic mouse model of PKU (Pah(enu2)) also produces cognitive impairments.
53 -Pah(enu2) mice, the genetic murine model of PKU.
54 d PAH P281L and ABCC6 R1164X mouse models of PKU and PXE, we show that when formulated in lipid nanop
55 nt as a definitive treatment for a subset of PKU patients.
56 r as a potential option for the treatment of PKU patients or as a possible model for the substitutive
57 n effective alternative for the treatment of PKU.
58     We show that young patients with MSUD or PKU have decreased average RBC UDPgalactose concentratio
59 egulatory properties is essential to outline PKU pathophysiological mechanisms.
60 lthy participants, phenylketonuric patients (PKU), patients with mucopolysaccharidoses (MPS), patient
61                             Phenylketonuria (PKU) is a common genetic disorder in humans that arises
62                             Phenylketonuria (PKU) is a genetic defect caused by lack of the liver enz
63                             Phenylketonuria (PKU) is a genetic deficiency of phenylalanine hydroxylas
64                             Phenylketonuria (PKU) is a rare genetic disorder that causes phenylalanin
65                             Phenylketonuria (PKU) is an autosomal recessive genetic disease caused by
66                             Phenylketonuria (PKU) is an autosomal recessive inborn error of L-phenyla
67                             Phenylketonuria (PKU) is an autosomal recessive metabolic disorder charac
68                             Phenylketonuria (PKU) requires a lifelong low-phenylalanine diet that pro
69                             Phenylketonuria (PKU), an autosomal recessive disorder caused by pathogen
70                             Phenylketonuria (PKU), caused by mutations in PAH that impair PAH functio
71                             Phenylketonuria (PKU), caused by phenylalanine (phe) hydroxylase loss of
72                             Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylas
73                             Phenylketonuria (PKU), pseudoxanthoma elasticum (PXE) and hereditary tyro
74                             Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn er
75                             Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) defic
76 malonic acidemia (MMA), and phenylketonuria (PKU).
77 ations in this enzyme cause phenylketonuria (PKU), a genetic disorder that leads to brain damage and
78 ydroxylase gene (PAH) cause phenylketonuria (PKU), PAH was studied for normal polymorphisms and linka
79 in the Pah gene that causes phenylketonuria (PKU) in humans.
80 e hydroxylase (PheH) causes phenylketonuria (PKU).
81  in patients with classical phenylketonuria (PKU) in Latvia.
82 ine patients with classical phenylketonuria (PKU).
83 humans leads to the disease phenylketonuria (PKU).
84 o the neurological disorder phenylketonuria (PKU).
85 aired brain function during phenylketonuria (PKU), the most common biochemical cause of mental retard
86                          In phenylketonuria (PKU) patients, a genetic defect in the enzyme phenylalan
87 o phenotypic variability in phenylketonuria (PKU).
88 abolic disorders, including phenylketonuria (PKU), is unknown.
89          Untreated maternal phenylketonuria (PKU) increases risk for developmental problems in offspr
90 rat model in which maternal phenylketonuria (PKU) is induced by the inclusion of an inhibitor of phen
91 damage produced by maternal phenylketonuria (PKU).
92 syrup urine disease (MSUD), phenylketonuria (PKU), and other metabolic diseases who were treated with
93  the most frequent cause of phenylketonuria (PKU), the most common inborn error of metabolism.
94 pean guidelines to optimise phenylketonuria (PKU) care.
95        Women with untreated phenylketonuria (PKU) often have poor reproductive outcomes.
96 ylase cDNA in the livers of phenylketonuric (PKU) mice.
97 ice exhibit phenotypes that closely resemble PKU patients such as retarded body growth, cutaneous hyp
98        FINDINGS: Regardless of diet and sex, PKU femora were more brittle, as manifested by lower pos
99 a CoQ values were significantly lower in the PKU and MPS groups than in controls and neurological pat
100 n of L-Phe at concentrations observed in the PKU brain depresses glutamatergic synaptic transmission
101 epressant effects of L-Phe take place in the PKU brain, then chronic impairment of the glutamate syst
102 s study aimed to characterize changes in the PKU plasma metabolome following a 5-d metabolic camp int
103  We sought to characterize the impact of the PKU genotype and dietary protein source on bone biomecha
104                                         This PKU bone phenotype is attenuated by a GMP diet compared
105 ular basis for how the R68S variant leads to PKU remains unclear.
106  hPAH and may increase the susceptibility to PKU-associated mutations.
107 evelop a live bacterial therapeutic to treat PKU and potentially other metabolic diseases.
108 s, serum phenylalanine levels in all treated PKU mice were reduced to the normal range and remained s
109                     We have investigated two PKU-inducing mutants, Arg158Gln and Glu280Lys, using kin
110 ncordantly with the disease state in various PKU kindreds.
111 oncentrated on European populations in which PKU was common and showed that haplotype-frequency varia
112  explain the brain disorders associated with PKU.
113 ed fatty acids were elevated in females with PKU at baseline, whereas fatty acylcholine metabolites w
114                              In females with PKU, untargeted metabolomics identified prominent pertur
115 umans, brain dysfunction in individuals with PKU is still not well understood and further research is
116 t for a large proportion of individuals with PKU.
117 verall, 30% of children born to mothers with PKU had social and behavioral problems.
118 he management and follow-up of patients with PKU are scheduled according to age, adherence to treatme
119         In early-treated adult patients with PKU, a 4-week high Phe intake was noninferior to continu
120 trations determine management of people with PKU.
121 red to the AA diet in 10 of 11 subjects with PKU, and there were no adverse reactions to GMP.
122 ures of protein utilization in subjects with PKU.
123        A total of 253 children of women with PKU (n = 149), with untreated mild hyperphenylalaninemia
124 layed development in offspring of women with PKU is associated with lack of maternal metabolic contro
125                                   Women with PKU were offered a low-phenylalanine diet prior to or du
126 phenylalanine intakes in pregnant women with PKU.

 
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