ライフサイエンスコーパス: encephalomyopathy

1 DS), sideroblastic anemia, and mitochondrial encephalomyopathy.

2 are usually associated with fatal infantile encephalomyopathy.

3 al infantile encephalocardiomyopathy to mild encephalomyopathy.

4 n a child who presented with infantile-onset encephalomyopathy.

5 y, she developed symptoms of a mitochondrial encephalomyopathy.

6 RNA(Leu(UUR)) gene associated with the MELAS encephalomyopathy.

7 is the most frequent cause of mitochondrial encephalomyopathies.

8 ellular respiration and produce severe human encephalomyopathies.

9 her six genes will cause similar early-onset encephalomyopathies.

10 malities in the mitochondrial myopathies and encephalomyopathies.

11 uent clinical presentation was mitochondrial encephalomyopathy (63%); however, a number of patients s

12 ment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive dise

13 We screened 41 patients with undiagnosed encephalomyopathies and cytochrome c oxidase (COX) defic

14 anisms underlying COX-mediated mitochondrial encephalomyopathies and to explore possible therapeutic

15 es) with mitochondrial neurogastrointestinal encephalomyopathy and an average age of 32.4 years (rang

16 ween the mitochondrial neurogastrointestinal encephalomyopathy and control brains, indicating that lo

17 eria for mitochondrial neurogastrointestinal encephalomyopathy and had severe thymidine phosphorylase

18 nts with mitochondrial neurogastrointestinal encephalomyopathy and improve clinical manifestations of

19 c gene, COQ2, was identified in a child with encephalomyopathy and nephrotic syndrome and in a younge

20 ad an infantile-onset but slowly progressive encephalomyopathy and responded favorably to riboflavin

21 ons including 3243A>G, causing mitochondrial encephalomyopathy and stroke-like episodes (MELAS), and

22 boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like episodes.

23 Mitochondrial encephalomyopathies are common and devastating multisyst

24 Childhood-onset mitochondrial encephalomyopathies are severe, relentlessly progressive

25 Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly pro

26 tal day 8, Tk2-/- mice rapidly develop fatal encephalomyopathy between postnatal days 10 and 13.

27 cial for mitochondrial neurogastrointestinal encephalomyopathy, but is associated with a high mortali

28 ia, and developmental delay caused by severe encephalomyopathy consistently associated with progressi

29 Mitochondrial diseases (encephalomyopathies) have traditionally been ascribed to

30 is a frequent cause of isolated myopathy or encephalomyopathy in children with mitochondrial DNA (mt

31 , and to mitochondrial neurogastrointestinal encephalomyopathy in six patients.

32 tions of mitochondrial neurogastrointestinal encephalomyopathy in the long term.

33 ly been associated with severe mitochondrial encephalomyopathy in two infants by impairing oxidative

34 rning renal involvement in the mitochondrial encephalomyopathies, including MELAS, and proposes a mec

35 Infant girl presenting with an encephalomyopathy, inspiratory stridor, ventilator failu

36 Mitochondrial neurogastrointestinal encephalomyopathy is a rare multisystemic autosomic rece

37 Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive multisystemi

38 lated in RRFs of patients with mitochondrial encephalomyopathies; it is noteworthy that NT-4 was not

39 itochondrial cybrids harboring mitochondrial encephalomyopathy lactic acidosis and stroke A3243G tRNA

40 ophic lateral sclerosis (ALS), mitochondrial encephalomyopathy, lactic acidosis and stroke-like episo

41 lly described in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like epis

42 n mtDNA, m.3243A>G, underlying mitochondrial encephalomyopathy, lactic acidosis, and stroke-like epis

43 u(UUR)) A3243G mutation causes mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symp

44 chondrial syndromes, including mitochondrial encephalomyopathy, lactic acidosis, and strokelike episo

45 al combination of optic atrophy, ptosis, and encephalomyopathy leading to intractable seizures.

46 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal, recessive disease

47 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive diso

48 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive diso

49 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive diso

50 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive diso

51 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive huma

52 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive huma

53 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mult

54 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the

55 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare, multisyste

56 athy, or mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

57 tions are a recurrent cause of mitochondrial encephalomyopathy onset in early infancy.

58 clonic epilepsy and ragged red fiber (MERRF) encephalomyopathy or a frameshift mutation, isolated in

59 ral subunit of COX that causes mitochondrial encephalomyopathy rather than lethality, whereas several

60 ated families, with a syndrome consisting of encephalomyopathy, sensorineural hearing loss, and hyper

61 ntrols and patients with other mitochondrial encephalomyopathies, thus fulfilling accepted criteria f

62 ses with optic atrophy such as mitochondrial encephalomyopathies, to age-related neurodegenerative di

63 nosis of mitochondrial neurogastrointestinal encephalomyopathy, together with timely treatment of acu

64 est that it is a good candidate for X-linked encephalomyopathies typically associated with mitochondr

65 ing from mitochondrial neurogastrointestinal encephalomyopathy who underwent allogeneic haematopoieti

66 DNA) is associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like e

67 europathy, Leigh syndrome, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like e

68 ultisystemic disorders such as mitochondrial encephalomyopathy with lactic acidosis and stroke-like e

69 biopsy findings typical of the mitochondrial encephalomyopathy with lactic acidosis and stroke-like e

70 igrees that carried either the mitochondrial encephalomyopathy with lactic acidosis and stroke-like e

71 Melas (mitochondrial encephalomyopathy with lactic acidosis and stroke-like e