ライフサイエンスコーパス: enzyme deficiency

1 ogic features of human adult-onset branching enzyme deficiency.

2 features of two human variants of branching enzyme deficiency.

3 ense mutation in DHFR, resulting in profound enzyme deficiency.

4 sed by an argininosuccinate synthetase (ASS) enzyme deficiency.

5 ference in how humans and mice cope with the enzyme deficiency.

6 ns why human Arg(41) mutations cause drastic enzyme deficiency.

7 first hereditary trait involving a specific enzyme deficiency.

8 rosidase (Gba) gene and exhibiting a partial enzyme deficiency.

9 enal biosynthetic pathways unaffected by the enzyme deficiency.

10 ch demonstrated a combined respiratory chain enzyme deficiency.

11 iants, some polymorphic, are associated with enzyme deficiency.

12 , focusing on known variants associated with enzyme deficiency.

13 iac and pulmonary disease, and in urea cycle enzyme deficiencies.

14 en reported in individuals with other linker enzyme deficiencies.

15 es an adaptable platform for other lysosomal enzyme deficiencies.

16 nervous system component of human lysosomal enzyme deficiencies.

17 t and use of mouse models of these inherited enzyme deficiencies.

18 omising results for NCLs caused by lysosomal enzyme deficiencies.

19 LN1 disease than for other similar lysosomal enzyme deficiencies.

20 ivity and female patients with moderate G6PD enzyme deficiency; all patients had confirmed P. vivax p

21 The resulting enzyme deficiency allows aspartylglucosamine (GlcNAc-Asn

22 The pattern of these enzyme deficiencies and their parallel to the anatomical

23 protein translation, causing combined OXPHOS enzyme deficiency and clinical disease.

24 acterized by bone marrow failure, telomerase enzyme deficiency, and progressive telomere shortening.

25 Inherited mutations that result in PAH enzyme deficiency are the genetic cause of the autosomal

26 ene therapy of nuclear-encoded mitochondrial enzyme deficiencies, as well as insights into the mechan

27 rials, and perhaps, for other homomultimeric enzyme deficiencies being considered as gene therapy tar

28 peutic options for rare congenital lysosomal enzyme deficiencies, but enzymes in clinical use are onl

29 Lysosomal enzyme deficiencies comprise a large group of genetic di

30 might be of therapeutic value for inherited enzyme deficiency disorders, we focused on the glycolyti

31 y had no health problems associated with the enzyme deficiency except for retinitis pigmentosa.

32 essive condition known as Glycogen Branching Enzyme Deficiency (GBED) is the result of one of these d

33 This enzyme deficiency has been shown in mice to require CD8(

34 ry disease to be identified that involved an enzyme deficiency, has been ascribed to mutations in the

35 r basis for correlating human mutations with enzyme deficiency have been limited by the lack of struc

36 with defective combined mitochondrial OXPHOS-enzyme deficiencies, identified a total of nine disease-

37 al requirement for ERT in patients with such enzyme deficiencies, immune tolerance induction should b

38 Experimental correction of lysosomal enzyme deficiencies in animal models suggests that low-l

39 could serve as a useful approach to overcome enzyme deficiencies in heterologous polyketide productio

40 in a single component often produce combined enzyme deficiencies in patients.

41 f autosomal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathw

42 tous experiment led to identification of the enzyme deficiencies in the Hurler and Hunter syndromes,

43 Dyclonine also rescued FXN-dependent enzyme deficiencies in the iron-sulfur enzymes, aconitas

44 ort of adequately addressing the alpha-Gal A enzyme deficiency in critical tissues, highlighting the

45 sphate dehydrogenase (G6PD), the most common enzyme deficiency in humans, and 6-phosphogluconate dehy

46 alomyopathy and a combined respiratory chain enzyme deficiency in muscle.

47 monstrate that CoQ depletion caused by Pdss2 enzyme deficiency in podocytes results in perturbations

48 uch as enzyme replacement therapy to correct enzyme deficiency in Pompe disease and SGLT2 inhibitors

49 molecular basis of mutations responsible for enzyme deficiency in propionic acidemia.

50 Severe enzyme deficiency in the double mutants was mainly deter

51 activity in both muscle and liver, and also enzyme deficiency in the liver, but not in muscle.

52 gene defects based on complementation of the enzyme deficiency in transformed fibroblast cell lines f

53 omuscular presentation of glycogen branching enzyme deficiency includes a severe infantile form and a

54 ensity for normal cells with mismatch repair enzyme deficiencies, including cells heterozygous for in

55 The enzyme deficiency is either familial or can be acquired

56 ating how two mutations jointly cause severe enzyme deficiency is important.

57 This enzyme deficiency leads to impaired catabolism of alpha-

58 re difficult to interpret due to the varying enzyme deficiency levels found in individual cells.

59 d mutations of the PKLR gene associated with enzyme deficiency located at cDNA nt 476 G-->T (159Gly--

60 oxisomes, either in their assembly or single enzyme deficiencies, manifest themselves in the nervous

61 Enzyme deficiency may be due to a variety of human mutat

62 Interestingly, a high frequency of FUT2 enzyme deficiency (nonsecretor phenotype) was observed i

63 mples, leading to combined respiratory-chain enzyme deficiency of complexes I, III, and IV.

64 the complex ramifications of cholesterogenic enzyme deficiency on cellular metabolism.

65 e deficiency in humans occurs as an isolated enzyme deficiency or as part of a contiguous gene deleti

66 different mutations cause varying degrees of enzyme deficiency, reflecting the response of G6PD varia

67 For oxalosis patients with minor enzyme deficiencies, renal transplantation may be the th

68 Monogenic diseases due to hepatic enzymes deficiency result in chronic hyperoxaluria, prom

69 Deletion of exon 2 of TMLHE causes enzyme deficiency, resulting in increased substrate conc

70 Enzyme deficiency results in accumulation of partially d

71 The enzyme deficiency results in intracellular accumulation

72 xisomal biogenesis disorders (PBD) or single-enzyme deficiencies (SED) in the peroxisomal beta-oxidat

73 ngs suggest that mitochondrial trifunctional enzyme deficiency should be considered in patients with

74 ency serves as a prototype of the many human enzyme deficiencies that are now known.

75 re that Muller glia in retinas have specific enzyme deficiencies that can enhance their ability to sy

76 idogenesis, each characterized by a specific enzyme deficiency that impairs cortisol production by th

77 Lowe protein 1), the mechanism by which this enzyme deficiency triggers the disease is not clear.

78 osphorylase-b-kinase deficiency or branching enzyme deficiency), whereas they form long lists for oth

79 spectrometric assay should easily detect the enzyme deficiency, which causes a reduction of activity

80 Thus, mitochondrial malic enzyme deficiency, which results in impaired NADPH produ

81 Acquired ALDH2 enzyme deficiency within the respiratory tract in AERD,