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1  affecting muscle mass in conditions such as phenylketonuria.
2 rations that occur with the genetic disorder phenylketonuria.
3 iated with the inherited metabolic disorder, phenylketonuria.
4 hance dietary adherence for individuals with phenylketonuria.
5 disturbances underlying brain dysfunction in phenylketonuria.
6 mize neurocognitive outcome in patients with phenylketonuria.
7 ein equivalents in free-living subjects with phenylketonuria.
8 ic cause of the autosomal recessive disorder phenylketonuria.
9 ble option for the nutritional management of phenylketonuria.
10            It is used to treat mild forms of phenylketonuria.
11  be detected through a newborn screening for phenylketonuria.
12 fe and well tolerated in adult patients with phenylketonuria.
13 lanine concentrations in adult patients with phenylketonuria.
14 .010, 0.030, and 0.100 mg/kg) to adults with phenylketonuria.
15 thod in a genetic mouse model (Pah(enu2)) of phenylketonuria.
16 etic sepiapterin in children and adults with phenylketonuria.
17 d therapeutic thresholds in hemophilia B and phenylketonuria.
18      Mutations in the human PheOH gene cause phenylketonuria, a common autosomal recessive metabolic
19 uences for the long-term treatment of murine phenylketonuria, a model for a genetic liver defect.
20  of phenylalanine in the blood can result in Phenylketonuria, a progressive mental retardation.
21 ated locus is the same as that causing human phenylketonuria and allows a comparison between these mo
22 ows therapeutic efficacy in a mouse model of phenylketonuria and found that it was genetically stable
23 rategy to optimize neurocognitive outcome in phenylketonuria and has been shown to influence 3 brain
24  treatments, namely, dietary restriction for phenylketonuria and miglustat for Niemann-Pick disease t
25 of mRNA-LNP-based prime editing for treating phenylketonuria and other genetic liver diseases, offeri
26  whole-blood newborns samples diagnosed with Phenylketonuria and total D-AAs in Vibrio cholera cultur
27 cid phenylalanine (Phe) in animals, known as phenylketonuria, are mitigated by excretion of Phe deriv
28 's disease) at a rate of about 1 in 40, PAH (Phenylketonuria) at a rate of about 1 in 40, and SLC25A1
29 s a kind of typical essential amino acid and phenylketonuria biomarker was developed on a surface mol
30                             In patients with phenylketonuria, blood phenylalanine concentration durin
31 t may offer more efficient identification of phenylketonuria, branched chain ketoaciduria (maple syru
32 uence 3 brain pathobiochemical mechanisms in phenylketonuria, but its optimal composition has not bee
33 selection system to correct a mouse model of phenylketonuria by cell transplantation.
34 disturbances underlying brain dysfunction in phenylketonuria can be targeted by specific LNAA supplem
35 s, most families with a history of classical phenylketonuria can take advantage of the genetic analys
36 anemia, hemophilia B, neurofibromatosis, and phenylketonuria, can be caused by 5'-splice-site (5'ss)
37 gininosuccinic aciduria, homocystinuria, and phenylketonuria demonstrate the method.
38                  For several AADs, including phenylketonuria, dietary modification prevents physiolog
39 ia (DRD) as well as in a child with atypical phenylketonuria due to complete GCH-1 deficiency.
40 ate the difficulty of maintaining control in phenylketonuria, especially in older rather than younger
41 ched by the success of newborn screening for phenylketonuria, experts in this area are optimistic tha
42 hat had been used extensively to rationalize phenylketonuria genotype-phenotype relationships.
43 mains a barrier to complete understanding of phenylketonuria genotype-phenotype relationships.
44           Two genetic mouse models for human phenylketonuria have been characterized by DNA sequence
45 eening for congenital thyroid deficiency and phenylketonuria, have decreased the prevalence of ID app
46 yte longevity or cause liver damage, such as phenylketonuria, hyperbilirubinemias, familial hyperchol
47                 We enrolled 89 patients with phenylketonuria in a Phase III, multicentre, randomised,
48 in the mouse model suggest that in untreated phenylketonuria in adults, the partial saturation of the
49 ease emerges, underscoring the similarity of phenylketonuria in mouse and man.
50                                              Phenylketonuria is a flagship inborn error of metabolism
51                                              Phenylketonuria is an inborn error of metabolism, involv
52                                              Phenylketonuria is an inherited condition characterised
53                                              Phenylketonuria is an inherited disease caused by impair
54       Early and strict dietary management of phenylketonuria is the only option to prevent mental ret
55 in seven powdered medical foods designed for phenylketonuria, maple syrup urine disease, methylmaloni
56                      Control groups included phenylketonuria mice receiving an isonitrogenic and isoc
57  and allows a comparison between these mouse phenylketonuria models and the human disease.
58 eting the pathogenic Pah(enu2) mutation in a phenylketonuria mouse model, gene correction rates reach
59               In the crystal structures of a phenylketonuria mutant, A313T, minor changes were seen w
60 ease-associated alleles for such entities as phenylketonuria or cystic fibrosis.
61 ports and case series that assessed maternal phenylketonuria or hyperphenylalaninemia during pregnanc
62 plications and neonatal sequelae of maternal phenylketonuria or hyperphenylalaninemia in untreated an
63 ne that the treatment of pregnant women with phenylketonuria or hyperphenylalaninemia is of great imp
64                           Untreated maternal phenylketonuria or hyperphenylalaninemia may result in n
65 gest cohort of untreated pregnant women with phenylketonuria or hyperphenylalaninemia since 1980.
66                                              Phenylketonuria patients harboring a subset of phenylala
67 We developed European guidelines to optimise phenylketonuria (PKU) care.
68  have a mutation in the Pah gene that causes phenylketonuria (PKU) in humans.
69 fective treatment in patients with classical phenylketonuria (PKU) in Latvia.
70                           Untreated maternal phenylketonuria (PKU) increases risk for developmental p
71                                              Phenylketonuria (PKU) is a common genetic disorder in hu
72                                              Phenylketonuria (PKU) is a genetic defect caused by lack
73                                              Phenylketonuria (PKU) is a genetic deficiency of phenyla
74                                              Phenylketonuria (PKU) is a rare genetic disorder that ca
75                                              Phenylketonuria (PKU) is an autosomal recessive genetic
76                                              Phenylketonuria (PKU) is an autosomal recessive inborn e
77                                              Phenylketonuria (PKU) is an autosomal recessive metaboli
78 development in a rat model in which maternal phenylketonuria (PKU) is induced by the inclusion of an
79                         Women with untreated phenylketonuria (PKU) often have poor reproductive outco
80                                           In phenylketonuria (PKU) patients, a genetic defect in the
81                                              Phenylketonuria (PKU) requires a lifelong low-phenylalan
82 lalanine, and mutations in this enzyme cause phenylketonuria (PKU), a genetic disorder that leads to
83                                              Phenylketonuria (PKU), an autosomal recessive disorder c
84 ients with maple syrup urine disease (MSUD), phenylketonuria (PKU), and other metabolic diseases who
85                                              Phenylketonuria (PKU), caused by mutations in PAH that i
86                                              Phenylketonuria (PKU), caused by phenylalanine (phe) hyd
87                                              Phenylketonuria (PKU), caused by variants in the phenyla
88  in inherited metabolic disorders, including phenylketonuria (PKU), is unknown.
89 e phenylalanine hydroxylase gene (PAH) cause phenylketonuria (PKU), PAH was studied for normal polymo
90                                              Phenylketonuria (PKU), pseudoxanthoma elasticum (PXE) an
91 that underlie impaired brain function during phenylketonuria (PKU), the most common biochemical cause
92 ase gene (PAH) is the most frequent cause of phenylketonuria (PKU), the most common inborn error of m
93 that contribute to phenotypic variability in phenylketonuria (PKU).
94 n of phenylalanine hydroxylase (PheH) causes phenylketonuria (PKU).
95  PAH activity in humans leads to the disease phenylketonuria (PKU).
96 ncentrations in nine patients with classical phenylketonuria (PKU).
97 tor in the fetal damage produced by maternal phenylketonuria (PKU).
98 emia (PA), methylmalonic acidemia (MMA), and phenylketonuria (PKU).
99 operties linked to the neurological disorder phenylketonuria (PKU).
100                                              Phenylketonuria (PKU, phenylalanine hydroxylase deficien
101                                              Phenylketonuria (PKU; also known as phenylalanine hydrox
102 itive risk factors such as maternal rubella; phenylketonuria; pregestational diabetes; exposure to th
103 uria, ornithine transcarbamylase deficiency, phenylketonuria, propionic acidemia, rhizomelic chondrod
104             To prevent cognitive impairment, phenylketonuria requires lifelong management of blood ph
105 enylalanine biosensing in human plasma for a phenylketonuria screening test, quantifying several othe
106 e (PAH) can lead to needed new therapies for phenylketonuria, the most common inborn error of amino a
107 (hPAH, EC 1.14.16.1) is the primary cause of phenylketonuria, the most common inborn error of amino a
108 nthetic biotic designed for the treatment of phenylketonuria to demonstrate dose-dependent production
109                                              Phenylketonuria treatment consists mainly of a Phe-restr
110 diagnosis of debilitating diseases including phenylketonuria, tyrosine-hydroxylase deficiency and pro
111  promising oral therapy for individuals with phenylketonuria, was well tolerated, and resulted in sig
112 mozygote mutation in the child with atypical phenylketonuria were detected.
113 als of all ages with a clinical diagnosis of phenylketonuria were eligible for inclusion if they had
114                        In some patients with phenylketonuria who are responsive to BH4, sapropterin t
115 after physical exercise and in patients with phenylketonuria who suffer from elevated Phe levels.
116 d hepatocytes is a potential therapeutic for phenylketonuria with long-term efficacy and a favorable
117 ere may help inform ongoing efforts to treat phenylketonuria with novel therapeutic approaches.
118 se model for treating the metabolic disorder phenylketonuria with phenylalanine ammonia lyase (PAL) f

 
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