ライフサイエンスコーパス: enzyme deficiency

1 features of two human variants of branching enzyme deficiency.

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

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

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

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

6 first hereditary trait involving a specific enzyme deficiency.

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

8 enal biosynthetic pathways unaffected by the enzyme deficiency.

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

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

11 nervous system component of human lysosomal enzyme deficiencies.

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

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

14 en reported in individuals with other linker enzyme deficiencies.

15 The resulting enzyme deficiency allows aspartylglucosamine (GlcNAc-Asn

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

39 The enzyme deficiency is either familial or can be acquired

40 This enzyme deficiency leads to impaired catabolism of alpha-

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

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

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

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

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

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

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

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

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

50 The enzyme deficiency results in intracellular accumulation

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

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

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

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

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

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

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

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

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