ライフサイエンスコーパス: Fanconi syndrome

1 ts during the first months of life, as renal Fanconi syndrome.

2 tations include mental retardation and renal Fanconi syndrome.

3 event progression to ESKD and does not treat Fanconi syndrome.

4 is the most common inherited cause of renal Fanconi syndrome.

5 tal cataracts, mental retardation, and renal Fanconi syndrome.

6 sease and the main cause of hereditary renal Fanconi syndrome.

7 drial mutations in patients with Gitelman or Fanconi syndrome.

8 Biopsy indications included Fanconi syndrome (38%; all with crystalline LCPT), renal

9 They are all forms of the renal Fanconi syndrome and are associated with tubular protein

10 include hyperinsulinemic hypoglycemia, renal Fanconi syndrome and liver disease.

11 kidneys, patients develop early-onset renal Fanconi syndrome and progressive CKD.

12 idence linking cellular stress and injury to Fanconi syndrome and progressive renal injury in nephrop

13 ystinosis, which may contribute to the renal Fanconi syndrome and progressive renal injury.

14 zed by bilateral congenital cataracts, renal Fanconi syndrome, and mental retardation.

15 ting apical dedifferentiation accounting for Fanconi syndrome before atrophy.

16 d proximal tubular dysfunction indicative of Fanconi syndrome, characterized by glycosuria, aminoacid

17 ial deafness, sideroblastic anemia and renal Fanconi syndrome, dying at 21 months.

18 Adult-acquired Fanconi syndrome (FS) is a rare complication of monoclon

19 - mice have type 2 diabetes, dwarfism, renal Fanconi syndrome, hepatic dysfunction and hypercholestro

20 is the most common inherited cause of renal Fanconi syndrome in children.

21 provide an explanation for the appearance of Fanconi syndrome in cystinosis.

22 ropathic cystinosis, we defined the onset of Fanconi syndrome in KO mice between 3 and 6 months of ag

23 ed significant nearly complete prevention of Fanconi syndrome, including low molecular weight protein

24 Autosomal dominant renal Fanconi syndrome is a genetic model for the study of pro

25 and frequently has concurrent LCPT, although Fanconi syndrome is uncommon.

26 Cystinosis, a main cause of Fanconi syndrome, is reproduced in congenic C57BL/6 cyst

27 reduced PT sodium and water reabsorption in Fanconi syndrome may contribute to proteinuria.

28 reduced PT sodium and water reabsorption in Fanconi syndrome may contribute to proteinuria.

29 he family with autosomal dominant idiopathic Fanconi syndrome (n = 2) exhibited megalin levels within

30 g activity, apart from the influences of the Fanconi syndrome on bone mineral metabolism.

31 not develop the congenital cataracts, renal Fanconi syndrome, or neurological abnormalities seen in

32 The Acadian variant of Fanconi Syndrome refers to a specific condition characte

33 se anti-brush border antibody disease, renal Fanconi syndrome, renal proximal tubular acidosis, or tu

34 ults demonstrate that the Acadian variant of Fanconi Syndrome results from mitochondrial respiratory

35 g proximal tubule (PT) dysfunction and renal Fanconi syndrome (RFS).

36 5% of patients with cystinosis display renal Fanconi syndrome, short stature, osteopenia, and rickets

37 Tenofovir-associated Fanconi syndrome (TAFS) is a proximal renal tubule disor

38 nephropathic cystinosis presents with renal Fanconi syndrome that evolves in time to CKD.

39 eralized proximal tubular dysfunction (renal Fanconi syndrome), then the disease rapidly affects glom

40 s syndrome, or autosomal dominant idiopathic Fanconi syndrome was explored.

41 t all complications of cystinosis, including Fanconi syndrome, we hypothesized that cystinosin could

42 Crystalline keratopathy and Fanconi syndrome were present in 22% and 10%, respective

43 product altered in autosomal dominant renal Fanconi syndrome will allow the study of the physiology

44 pha homozygous knockout mice exhibit a renal Fanconi syndrome with glucosuria and generalized aminoac