ライフサイエンスコーパス: tyrosinemia

1 ccinylacetone (SA), a marker for hepatorenal tyrosinemia.

2 esponsible for type I, type II, and type III tyrosinemia.

3 ish worms as a model for the study of type I tyrosinemia.

4 cer-prone metabolic liver disease hereditary tyrosinemia.

5 umarylacetoacetate hydrolase and manifesting tyrosinemia.

6 -causing mutation in a mouse model of type I tyrosinemia.

7 PR screening using the Fah knockout model of tyrosinemia.

8 on in the Fah(-/-) mouse model of hereditary tyrosinemia.

9 mouse model of the human disease hereditary tyrosinemia.

10 lohexanedione (NTBC) is used to treat type I tyrosinemia, a rare but fatal defect in tyrosine catabol

11 approved for use in the treatment of type I tyrosinemia and as such has an extensive history of use

12 trategy to a mouse model of human hereditary tyrosinemia and show that the treatment generated fumary

13 cystic fibrosis, fulminant hepatic failure, tyrosinemia, and chronic rejection.

14 protected from the liver and renal damage of tyrosinemia as hypothesized.

15 mpairs adaptation, LKO mice were bred onto a tyrosinemia background, a disease model whereby the live

16 n of l-tyrosine (l-Tyr) in human plasma from tyrosinemia-diagnosed patients.

17 treat two disease models [type I hereditary tyrosinemia (HT-I) and mucopolysaccharidosis type I (MPS

18 at TJ-PE can rewrite an exon in the liver of tyrosinemia I mice to reverse the disease phenotype.

19 all mice that became completely resistant to tyrosinemia-induced hepatic injury.

20 ble to morbidities and death associated with tyrosinemia-induced liver failure, they developed regene

21 Tyrosinemia is a severe childhood disease that affects t

22 In a mouse model of tyrosinemia, PEDAR removed a 1.38-kb pathogenic insertio

23 wed it to become a curative agent for type I tyrosinemia (T1T) and to enter clinical trials for alkap

24 ification of two metabolic diseases (PKU and tyrosinemia) through blood analysis with minimal sample

25 seudoxanthoma elasticum (PXE) and hereditary tyrosinemia type 1 (HT1) are autosomal recessive disorde

26 hepatocytes from a mouse model of hereditary tyrosinemia type 1 (HT1) into expandable CdHs and succes

27 Hereditary tyrosinemia type 1 (HT1) is a severe autosomal recessive

28 Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disea

29 The murine model of hereditary tyrosinemia type 1 (HT1) was used to analyze the relatio

30 Patients with hereditary tyrosinemia type 1 have a deficiency of fumarylacetoacet

31 Tyrosinemia type 1 is caused by deficiency of fumarylace

32 hich is FDA approved for treating hereditary tyrosinemia type 1, elevates plasma tyrosine levels, and

33 the FAH gene are associated with hereditary tyrosinemia type I (HT1 or TYRSN1) in humans.

34 Hereditary tyrosinemia type I (HT1) results in hepatic failure, cir

35 cetoacetate hydrolase (FAH) cause hereditary tyrosinemia type I (HT1), a metabolic disorder character

36 using the fatal metabolic disease hereditary tyrosinemia type I (HT1).

37 ncy with clinical similarities to hereditary tyrosinemia type I (pseudotyrosinemia).

38 the human metabolic liver disease hereditary tyrosinemia type I and a stringent in vivo model for hep

39 Hereditary tyrosinemia type I and alkaptonuria are disorders of tyr

40 se model of the metabolic disease hereditary tyrosinemia type I was used to test whether targeted AAV

41 poson system in the treatment of hemophilia, tyrosinemia type I, junctional epidermolysis bullosa and

42 ls in the FAH(-/-) mouse, an animal model of tyrosinemia type I, rescued the mouse and restored the b

43 ah(-/-)), a model of the human liver disease tyrosinemia type I.

44 atients with the inborn errors of metabolism tyrosinemia type II, argininosuccinic aciduria, homocyst

45 Conventional therapy for hereditary tyrosinemia type-1 (HT1) with 2-(2-nitro-4-trifluorometh

46 The most severe of these is type I tyrosinemia, which is caused by mutations affecting the