ライフサイエンスコーパス: phenylketonuria

1 ein equivalents in free-living subjects with phenylketonuria.

2 ic cause of the autosomal recessive disorder phenylketonuria.

3 ble option for the nutritional management of phenylketonuria.

4 It is used to treat mild forms of phenylketonuria.

5 be detected through a newborn screening for phenylketonuria.

6 fe and well tolerated in adult patients with phenylketonuria.

7 lanine concentrations in adult patients with phenylketonuria.

8 rations that occur with the genetic disorder phenylketonuria.

9 .010, 0.030, and 0.100 mg/kg) to adults with phenylketonuria.

10 iated with the inherited metabolic disorder, phenylketonuria.

11 thod in a genetic mouse model (Pah(enu2)) of phenylketonuria.

12 hance dietary adherence for individuals with phenylketonuria.

13 disturbances underlying brain dysfunction in phenylketonuria.

14 mize neurocognitive outcome in patients with phenylketonuria.

15 Mutations in the human PheOH gene cause phenylketonuria, a common autosomal recessive metabolic

16 uences for the long-term treatment of murine phenylketonuria, a model for a genetic liver defect.

17 of phenylalanine in the blood can result in Phenylketonuria, a progressive mental retardation.

18 ated locus is the same as that causing human phenylketonuria and allows a comparison between these mo

19 rategy to optimize neurocognitive outcome in phenylketonuria and has been shown to influence 3 brain

20 treatments, namely, dietary restriction for phenylketonuria and miglustat for Niemann-Pick disease t

21 whole-blood newborns samples diagnosed with Phenylketonuria and total D-AAs in Vibrio cholera cultur

22 cid phenylalanine (Phe) in animals, known as phenylketonuria, are mitigated by excretion of Phe deriv

23 In patients with phenylketonuria, blood phenylalanine concentration durin

24 t may offer more efficient identification of phenylketonuria, branched chain ketoaciduria (maple syru

25 uence 3 brain pathobiochemical mechanisms in phenylketonuria, but its optimal composition has not bee

26 disturbances underlying brain dysfunction in phenylketonuria can be targeted by specific LNAA supplem

27 s, most families with a history of classical phenylketonuria can take advantage of the genetic analys

28 anemia, hemophilia B, neurofibromatosis, and phenylketonuria, can be caused by 5'-splice-site (5'ss)

29 gininosuccinic aciduria, homocystinuria, and phenylketonuria demonstrate the method.

30 ia (DRD) as well as in a child with atypical phenylketonuria due to complete GCH-1 deficiency.

31 ate the difficulty of maintaining control in phenylketonuria, especially in older rather than younger

32 ched by the success of newborn screening for phenylketonuria, experts in this area are optimistic tha

33 hat had been used extensively to rationalize phenylketonuria genotype-phenotype relationships.

34 mains a barrier to complete understanding of phenylketonuria genotype-phenotype relationships.

35 Two genetic mouse models for human phenylketonuria have been characterized by DNA sequence

36 eening for congenital thyroid deficiency and phenylketonuria, have decreased the prevalence of ID app

37 yte longevity or cause liver damage, such as phenylketonuria, hyperbilirubinemias, familial hyperchol

38 We enrolled 89 patients with phenylketonuria in a Phase III, multicentre, randomised,

39 in the mouse model suggest that in untreated phenylketonuria in adults, the partial saturation of the

40 ease emerges, underscoring the similarity of phenylketonuria in mouse and man.

41 Phenylketonuria is a flagship inborn error of metabolism

42 Phenylketonuria is an inborn error of metabolism, involv

43 Phenylketonuria is an inherited disease caused by impair

44 Early and strict dietary management of phenylketonuria is the only option to prevent mental ret

45 Control groups included phenylketonuria mice receiving an isonitrogenic and isoc

46 and allows a comparison between these mouse phenylketonuria models and the human disease.

47 In the crystal structures of a phenylketonuria mutant, A313T, minor changes were seen w

48 ease-associated alleles for such entities as phenylketonuria or cystic fibrosis.

49 ports and case series that assessed maternal phenylketonuria or hyperphenylalaninemia during pregnanc

50 plications and neonatal sequelae of maternal phenylketonuria or hyperphenylalaninemia in untreated an

51 ne that the treatment of pregnant women with phenylketonuria or hyperphenylalaninemia is of great imp

52 Untreated maternal phenylketonuria or hyperphenylalaninemia may result in n

53 gest cohort of untreated pregnant women with phenylketonuria or hyperphenylalaninemia since 1980.

54 Phenylketonuria patients harboring a subset of phenylala

55 We developed European guidelines to optimise phenylketonuria (PKU) care.

56 have a mutation in the Pah gene that causes phenylketonuria (PKU) in humans.

57 Untreated maternal phenylketonuria (PKU) increases risk for developmental p

58 Phenylketonuria (PKU) is a common genetic disorder in hu

59 Phenylketonuria (PKU) is an autosomal recessive genetic

60 development in a rat model in which maternal phenylketonuria (PKU) is induced by the inclusion of an

61 Women with untreated phenylketonuria (PKU) often have poor reproductive outco

62 Phenylketonuria (PKU) requires a lifelong low-phenylalan

63 ients with maple syrup urine disease (MSUD), phenylketonuria (PKU), and other metabolic diseases who

64 Phenylketonuria (PKU), caused by phenylalanine (phe) hyd

65 e phenylalanine hydroxylase gene (PAH) cause phenylketonuria (PKU), PAH was studied for normal polymo

66 that underlie impaired brain function during phenylketonuria (PKU), the most common biochemical cause

67 PAH activity in humans leads to the disease phenylketonuria (PKU).

68 ncentrations in nine patients with classical phenylketonuria (PKU).

69 tor in the fetal damage produced by maternal phenylketonuria (PKU).

70 Phenylketonuria (PKU, phenylalanine hydroxylase deficien

71 itive risk factors such as maternal rubella; phenylketonuria; pregestational diabetes; exposure to th

72 To prevent cognitive impairment, phenylketonuria requires lifelong management of blood ph

73 e (PAH) can lead to needed new therapies for phenylketonuria, the most common inborn error of amino a

74 Phenylketonuria treatment consists mainly of a Phe-restr

75 mozygote mutation in the child with atypical phenylketonuria were detected.

76 In some patients with phenylketonuria who are responsive to BH4, sapropterin t

77 after physical exercise and in patients with phenylketonuria who suffer from elevated Phe levels.

78 se model for treating the metabolic disorder phenylketonuria with phenylalanine ammonia lyase (PAL) f