ライフサイエンスコーパス: PKU

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 Examination of the mutations causing PKU shows that some of the most frequent mutations are l

6 Phenylalanine hydroxylase (Pah)-deficient "PKU mice" have a mutation in the Pah gene that causes ph

7 he identification of two metabolic diseases (PKU and tyrosinemia) through blood analysis with minimal

8 find the water faster on day 2, pre-exposed PKU mice showed no significant benefit from their pre-ex

9 ain tissue from heterozygous and homozygous (PKU) Pah(enu2) mice.

10 nt up-regulation of NMDA receptor density in PKU mice.

11 pected at plasma Phe levels usually found in PKU patients.

12 ons of L-Phe were nearly six-fold greater in PKU mice (863.12 +/- 17.96 micromol/kg) than in their he

13 lementation with L-tyrosine in five maternal PKU pregnancies.

14 individuals aged 0-12 years and for maternal PKU, and 120-600 mumol/L for non-pregnant individuals ol

15 to normal or above-normal values in maternal PKU pregnancies for a period of > or = 3 h by supplement

16 mino acid profile in a rat model of maternal PKU induced by DL-alpha-methylphenylalanine (AMPhe).

17 in growth observed in this model of maternal PKU.

18 g to conceive and during pregnancy (maternal PKU), untreated phenylalanine blood concentrations of mo

19 a poorly understood chronic complication of PKU.

20 e and weak femora, is an inherent feature of PKU.

21 nylalanine hydroxylase cDNA to the livers of PKU mice by hydrodynamic injection of plasmid DNA and sh

22 tein source in the nutritional management of PKU.

23 rst evidence that the genetic mouse model of PKU (Pah(enu2)) also produces cognitive impairments.

24 -Pah(enu2) mice, the genetic murine model of PKU.

25 r as a potential option for the treatment of PKU patients or as a possible model for the substitutive

26 n effective alternative for the treatment of PKU.

27 We show that young patients with MSUD or PKU have decreased average RBC UDPgalactose concentratio

28 Phenylketonuria (PKU) is a common genetic disorder in humans that arises

29 Phenylketonuria (PKU) is an autosomal recessive genetic disease caused by

30 Phenylketonuria (PKU) requires a lifelong low-phenylalanine diet that pro

31 Phenylketonuria (PKU), caused by phenylalanine (phe) hydroxylase loss of

32 Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn er

33 ydroxylase gene (PAH) cause phenylketonuria (PKU), PAH was studied for normal polymorphisms and linka

34 in the Pah gene that causes phenylketonuria (PKU) in humans.

35 ine patients with classical phenylketonuria (PKU).

36 humans leads to the disease phenylketonuria (PKU).

37 aired brain function during phenylketonuria (PKU), the most common biochemical cause of mental retard

38 Untreated maternal phenylketonuria (PKU) increases risk for developmental problems in offspr

39 rat model in which maternal phenylketonuria (PKU) is induced by the inclusion of an inhibitor of phen

40 damage produced by maternal phenylketonuria (PKU).

41 syrup urine disease (MSUD), phenylketonuria (PKU), and other metabolic diseases who were treated with

42 pean guidelines to optimise phenylketonuria (PKU) care.

43 Women with untreated phenylketonuria (PKU) often have poor reproductive outcomes.

44 ylase cDNA in the livers of phenylketonuric (PKU) mice.

45 FINDINGS: Regardless of diet and sex, PKU femora were more brittle, as manifested by lower pos

46 n of L-Phe at concentrations observed in the PKU brain depresses glutamatergic synaptic transmission

47 epressant effects of L-Phe take place in the PKU brain, then chronic impairment of the glutamate syst

48 We sought to characterize the impact of the PKU genotype and dietary protein source on bone biomecha

49 This PKU bone phenotype is attenuated by a GMP diet compared

50 s, serum phenylalanine levels in all treated PKU mice were reduced to the normal range and remained s

51 We have investigated two PKU-inducing mutants, Arg158Gln and Glu280Lys, using kin

52 ncordantly with the disease state in various PKU kindreds.

53 oncentrated on European populations in which PKU was common and showed that haplotype-frequency varia

54 explain the brain disorders associated with PKU.

55 verall, 30% of children born to mothers with PKU had social and behavioral problems.

56 he management and follow-up of patients with PKU are scheduled according to age, adherence to treatme

57 trations determine management of people with PKU.

58 red to the AA diet in 10 of 11 subjects with PKU, and there were no adverse reactions to GMP.

59 ures of protein utilization in subjects with PKU.

60 A total of 253 children of women with PKU (n = 149), with untreated mild hyperphenylalaninemia

61 layed development in offspring of women with PKU is associated with lack of maternal metabolic contro

62 Women with PKU were offered a low-phenylalanine diet prior to or du

63 phenylalanine intakes in pregnant women with PKU.