ライフサイエンスコーパス: acidemia

1 bacteremia, inflammatory markers, and lactic acidemia.

2 e.g. in propionic acidemia and methylmalonic acidemia.

3 ecular weight proteinuria, phosphaturia, and acidemia.

4 hormone concentrations, as well as metabolic acidemia.

5 s the molecular basis of mutations in lactic acidemia.

6 sponsible for enzyme deficiency in propionic acidemia.

7 y, hyperlipidemia, hyperuricemia, and lactic acidemia.

8 not associated with detrimental respiratory acidemia.

9 yme result in the mut forms of methylmalonic acidemia.

10 ents with mitochondrial disorders or organic acidemias.

11 ial dysfunction is a feature of this organic acidemia, a background-modified Mut-knockout mouse model

12 r alpha PCC or beta PCC results in propionic acidemia, an autosomal recessive disorder.

13 odes of encephalopathy accompanied by lactic acidemia and had exercise intolerance and proximal myopa

14 cobalamin metabolism, combined methylmalonic acidemia and hyperhomocysteinemia, cblC type, is caused

15 f an X-linked form of combined methylmalonic acidemia and hyperhomocysteinemia, designated cblX.

16 oped metabolic acidosis, as well as profound acidemia and hypoglycemia.

17 Acidemia and increased anion gap, markers of systemic hy

18 ctical or contraindicated, e.g. in propionic acidemia and methylmalonic acidemia.

19 sets, monocytes and neutrophils from organic acidemia and mitochondrial patients who were not on anti

20 n a tissue-specific fashion in methylmalonic acidemia and suggest treatment approaches based on impro

21 were associated with significant respiratory acidemia and therefore should be avoided.

22 f extracorporeal treatment for correction of acidemia and/or enhanced elimination.

23 s controversial for the treatment of organic acidemias and fulminant hepatic failure.

24 hepatic failure, refractory epilepsy, lactic acidemia, and coma.

25 the 21 subjects developed acute respiratory acidemia at peak exercise before and after surgery, resp

26 with the patients with GKD having metabolic acidemia during their episodic crises.

27 aracterized in part by brain lesions, lactic acidemia, excretion of ethylmalonic acid, and ultimately

28 Fumaric aciduria (fumaric acidemia, fumarase deficiency) is a rare inborn error of

29 s in branched amino acid metabolism (organic acidemias), have been shown to be associated with impair

30 All subjects manifested early-onset lactic acidemia, hypotonia, and developmental delay caused by s

31 congenital sensorineural deafness and lactic acidemia in association with combined respiratory chain

32 human diseases propionic- and methylmalonic acidemia, in which the canonical B12-dependent propionat

33 Isovaleric acidemia is a rare inborn error of metabolism caused by

34 Methylmalonic acidemia is an autosomal recessive inborn error of metab

35 to give bicarbonate to a patient with severe acidemia is apt to be all but irresistible.

36 Isovaleric acidemia (IVA) is a recessive disorder caused by a defic

37 Isovaleric acidemia (IVA) is an inborn error of leucine metabolism

38 n fibroblasts from a patient with isovaleric acidemia leading to a shift in reading frame and prematu

39 ssembly, and activity suggest that propionic acidemia may be amenable to chaperone therapy.

40 Isolated methylmalonic acidemia (MMA) is managed by dietary protein restriction

41 Isolated methylmalonic acidemia (MMA), caused by deficiency of the mitochondria

42 tive urine anion gap, alkaline urine despite acidemia, no rise in urine PCO2 with alkaluria, a urine

43 itin-proteasome pathway is stimulated by the acidemia of CRF includes the following findings: (a) An

44 three missense mutations found in propionic acidemia or methylcrotonylglycinuria patients.

45 result in the metabolic deficiency propionic acidemia or methylcrotonylglycinuria.

46 was performed in a mouse model of propionic acidemia (PA) and in patients' plasma samples to investi

47 Propionic acidemia (PA) is an inborn error of metabolism caused by

48 f either gene in humans results in propionic acidemia (PA).

49 blood products (odds ratio, 3.0; p < 0.001), acidemia (pH < 7.35; odds ratio, 2.0; p =.032) and a his

50 severe endurance defects, and chronic lactic acidemia, recapitulating some clinical symptoms describe

51 uffering from the mut- form of methylmalonic acidemia, resulting from defective AdoCbl binding.

52 are of questionable value although metabolic acidemia seems helpful for prognostication.

53 Patients with organic acidemias showed elevated plasma protein carbonyls, whil

54 lance in mitochondrial disorders and organic acidemias, thus providing a relatively non-invasive mean

55 Glutaric acidemia type I (GA-I) is an autosomal recessive disorde

56 Glutaric acidemia type I (GA-I) is an inherited disorder of lysin

57 Glutaric acidemia type I (GA-I) is an inherited neurometabolic ch

58 Fibroblast DNA from 64 unrelated glutaric acidemia type I (GA1) patients was screened for mutation

59 erited defects in the protein cause glutaric acidemia type I, a fatal neurologic disease.

60 deficiency of ETF or ETFDH leads to glutaric acidemia type II, an inherited metabolic disorder that c

61 e human inherited metabolic disease glutaric acidemia type II.

62 fects ETF activity in patients with glutaric acidemia type II.

63 Acidemia was prevented in CRF rats with NaHCO3.

64 liver from a patient with mut methylmalonic acidemia was studied in a similar fashion.

65 threshold, a marker for the onset of lactic acidemia, was observed at the lowest energy requirement

66 C results in a metabolic disorder, propionic acidemia, which is sufficiently severe to cause neonatal

67 eficiency of IVD in humans causes isovaleric acidemia, which shows tremendous clinical variability fo

68 Persistent acidosis and acidemia while on CRRT was a strong predictor of poor ou

69 s to 4 weeks after resolution of respiratory acidemia, who were recruited from 13 UK centers between

70 others, one documented to have methylmalonic acidemia with homocystinuria, or cobalamin C deficiency,