ライフサイエンスコーパス: homocystinuria

1 in CblD cause methylmalonic aciduria and/or homocystinuria.

2 abolism, and its inherited deficiency causes homocystinuria.

3 peutical approach to pyridoxine unresponsive homocystinuria.

4 st common locus of mutations associated with homocystinuria.

5 th, liver damage, and osteoporosis in murine homocystinuria.

6 ated in the pathogenic mechanisms underlying homocystinuria.

7 change in connective tissue function seen in homocystinuria.

8 st common locus of mutations associated with homocystinuria.

9 Inherited deficiency of CBS causes homocystinuria.

10 lopment of connective tissue defects seen in homocystinuria.

11 ion and is the enzyme deficient in classical homocystinuria.

12 lism, and malfunction of the enzyme leads to homocystinuria, a devastating metabolic disease.

13 onine beta-synthase (CBS) are known to cause homocystinuria, a recessive disorder characterized by ex

14 Mutations in CBS are known to cause homocystinuria, an inborn error in metabolism.

15 ccumulation of L-homocysteine, are linked to homocystinuria and cardiovascular diseases.

16 amino acid homocysteine (HC) accumulates in homocystinuria and homocyst(e)inemia, and is associated

17 findings suggest a new drug target to treat homocystinuria and homocysteine-related vascular disease

18 substrates of CBS, is known to accumulate in homocystinuria and is metabolized to homocysteate and ho

19 lamin disorders that manifest in both severe homocystinuria and methylmalonic aciduria.

20 The phenotypic similarities between homocystinuria and MFS suggest that elevated homocystein

21 s may contribute to the pathogenesis of both homocystinuria and modest hyperhomocysteinemia.

22 A major focus in attempts to ameliorate homocystinuria and neural tube defects is supplementatio

23 vitamin supplementation in the treatment of homocystinuria and neural tube defects.

24 Severe MTHFR deficiency results in homocystinuria and neurologic impairment.

25 is a promising approach for the treatment of homocystinuria and that ERT for metabolic diseases may n

26 ype of cystathionine beta-synthase-deficient homocystinuria and the positive association of plasma to

27 umerous missense mutations causing inherited homocystinuria and will allow the rational design of com

28 osinemia type II, argininosuccinic aciduria, homocystinuria, and phenylketonuria demonstrate the meth

29 s, and thromboembolism) in patients who have homocystinuria as a result of a deficiency of cystathion

30 apy (ERT) provides long-term amelioration of homocystinuria-associated phenotypes in CBS-deficient mu

31 eles previously sequenced from patients with homocystinuria by ortholog replacement in Saccharomyces

32 Homocystinuria due to cystathionine beta-synthase defici

33 Analysis of an archival case of homocystinuria from 1933 and a case of cobalamin C disea

34 Individuals with homocystinuria have markedly elevated plasma levels of h

35 homocysteine (Hcy), hyperhomocysteinemia or homocystinuria, have been associated with various diseas

36 Cystathionine beta-synthase-deficient homocystinuria (HCU) is a serious life-threatening inbor

37 Classical homocystinuria (HCU) is an inborn error of sulfur amino

38 nic mutations in CBS result in CBS-deficient homocystinuria (HCU) which, if untreated, results in men

39 Homocystinuria is an inborn error of methionine metaboli

40 n cause of severely elevated homocysteine or homocystinuria is inherited disorders in cystathionine b

41 synthase (CBS) gene in a single patient with homocystinuria, is highly prevalent.

42 Patients with homocystinuria lack the enzyme cystathionine beta-syntha

43 ion of PEGylated CBS into the circulation of homocystinuria model mice alters the extra- and intracel

44 fects of mutations that cause human disease (homocystinuria or coronary heart disease).

45 cumented to have methylmalonic acidemia with homocystinuria, or cobalamin C deficiency, after autopsy

46 viewed the results of neonatal screening for homocystinuria over a period of 32 years in New England.

47 er deciliter in neonatal screening tests for homocystinuria should identify affected infants who have

48 prevalence of osteoporosis among people with homocystinuria suggests that a high serum homocysteine c

49 Deficiency of CBS activity causes homocystinuria, the most frequent disorder of sulfur ami

50 Inherited deficiency of CBS activity causes homocystinuria, the most frequent disorder of sulfur met

51 eficiency is a human genetic disease causing homocystinuria, thrombosis, mental retardation, and a su

52 mutations in the methylmalonic aciduria and homocystinuria type C (MMACHC) gene.

53 with MMADHC (the methylmalonic aciduria and homocystinuria type C protein), or CblC, and for support

54 MMADHC (the methylmalonic aciduria and homocystinuria type D protein), commonly referred to as

55 isease was unknown until 1962, when cases of homocystinuria were first associated with vascular disea

56 infants screened during that period, 8 with homocystinuria were identified (1:275,000).

57 r) in the blood typify the childhood disease homocystinuria, whereas modest levels (tens of micromola

58 ketoaciduria (maple syrup urine disease) and homocystinuria, which are currently screened for by the

59 CBS deficiency is associated with homocystinuria, which is known to affect various physiol

60 Homocystinuria, which typically results from cystathioni

61 Because patients with rare familial homocystinuria who also carry factor V Leiden have an in