ライフサイエンスコーパス: renal tubular acidosis

1 arly-onset sensorineural deafness and distal renal tubular acidosis.

2 f hereditary hemolytic anemias and/or distal renal tubular acidosis.

3 nic mechanism of S427L in mediating proximal renal tubular acidosis.

4 thy, primary hyperparathyroidism, and distal renal tubular acidosis.

5 TM1 impairs ion transport, causing proximal renal tubular acidosis.

6 lead to the human diseases osteopetrosis and renal tubular acidosis.

7 ing both hereditary spherocytosis and distal renal tubular acidosis.

8 is prevented and the animals develop distal renal tubular acidosis.

9 was disrupted and the mice exhibited distal renal tubular acidosis.

10 isoform, cause the clinical condition distal renal tubular acidosis.

11 er featuring hypertension, hyperkalemia, and renal tubular acidosis.

12 iency due to a point mutation also manifests renal tubular acidosis.

13 ns in this syndrome, which involves proximal renal tubular acidosis.

14 distal nephron acid secretion, cause distal renal tubular acidosis, a condition characterized by imp

15 main of NBCe1 (SLC4A4) is linked to proximal renal tubular acidosis and results in impaired transport

16 tosomal recessive syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification.

17 mal recessive syndrome of osteopetrosis with renal tubular acidosis, and familial renal hypomagnesemi

18 t disease in patients lacking the cataracts, renal tubular acidosis, and neurological abnormalities t

19 cystic fibrosis, growth hormone deficiency, renal tubular acidosis, and small for gestational age wi

20 discuss why not all gene defects that cause renal tubular acidosis are associated with hypercalciuri

21 role in hereditary spherocytosis and distal renal tubular acidosis are described.

22 Glaucoma, cataracts, and proximal renal tubular acidosis are diseases caused by point muta

23 on of renal concentration defects and distal renal tubular acidosis as a result of impaired V-ATPase

24 eletion of Slc26a7 expression develop distal renal tubular acidosis, as manifested by metabolic acido

25 The form of renal tubular acidosis associated with hyperkalemia is u

26 The distal renal tubular acidosis-associated AE1 901X mutant exhibi

27 Autosomal dominant distal renal tubular acidosis (ddRTA) is caused by mutations in

28 omal-dominant and -recessive forms of distal renal tubular acidosis (dRTA) are caused by mutations in

29 Autosomal recessive distal renal tubular acidosis (dRTA) is a severe disorder of ac

30 Distal renal tubular acidosis (dRTA) is characterized by defect

31 Primary distal renal tubular acidosis (dRTA) is characterized by reduce

32 cally reduced renal acid excretion in distal renal tubular acidosis (dRTA) may lead to nephrocalcinos

33 ercalated cells (ICs) leads to type I distal renal tubular acidosis (dRTA), a disease associated with

34 ren's syndrome and a secretory-defect distal renal tubular acidosis (dRTA), absence of vacuolar H(+)-

35 The primary or hereditary form of distal renal tubular acidosis (dRTA), although rare, has receiv

36 meostasis and, when defective, causes distal renal tubular acidosis (dRTA).

37 calated cell cause autosomal dominant distal renal tubular acidosis (dRTA).

38 he consequent development of complete distal renal tubular acidosis (dRTA).

39 lenge showed the child has incomplete distal renal tubular acidosis (dRTA).

40 ons that lead to inheritable forms of distal renal tubular acidosis (dRTA).

41 a4 subunit isoforms, cause recessive distal renal tubular acidosis (dRTA).

42 ne ATP6V1B1 cause autosomal-recessive distal renal tubular acidosis (dRTA).

43 ions of the human ATP6V1B1 gene cause distal renal tubular acidosis (dRTA; OMIM #267300) often associ

44 ith a clinical diagnosis of inherited distal renal tubular acidosis has no identified causative mutat

45 s protons in the distal nephron cause distal renal tubular acidosis in humans, a condition characteri

46 NBC1 mutations cause proximal renal tubular acidosis in humans, consistent with its ro

47 n shown to cause an inherited form of distal renal tubular acidosis in humans.

48 city led to hypophosphataemic rickets and/or renal tubular acidosis in six children, and distal tubul

49 usses a likely mechanism for dominant distal renal tubular acidosis in which associations between the

50 The involvement of band 3 in distal renal tubular acidosis is reviewed.

51 ions including primary aldosteronism, distal renal tubular acidosis, Liddle's disease, apparent miner

52 (2) dose level, renal dysfunction resembling renal tubular acidosis occurred in four of 10 patients a

53 d as a potential cause of unexplained distal renal tubular acidosis or decreased gastric acid secreti

54 y in humans is associated with a syndrome of renal tubular acidosis, osteopetrosis, and cerebral calc

55 on, and various disease processes, including renal tubular acidosis, osteopetrosis, and tumor metasta

56 Proximal renal tubular acidosis (pRTA) is a rare, recessively-inh

57 Proximal renal tubular acidosis (pRTA) is a syndrome caused by ab

58 e mutations in NBCe1-A cause severe proximal renal tubular acidosis (pRTA).

59 in the bicarbonate-wasting disease proximal renal tubular acidosis (pRTA).

60 99Val) in an individual with severe proximal renal tubular acidosis (pRTA; usually associated with de

61 tosis, south-east Asian ovalocytosis, distal renal tubular acidosis, Rhnull), associated with both st

62 , poor growth, gastrointestinal dysmotility, renal tubular acidosis, seizures, and episodic metabolic

63 bulatory setting, particularly patients with renal tubular acidosis syndromes or diarrhea.

64 h severe intrauterine growth retardation and renal tubular acidosis was excluded.

65 the proximal tubule in the context of distal renal tubular acidosis will require further clarificatio