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1 f hereditary hemolytic anemias and/or distal renal tubular acidosis.
2 nic mechanism of S427L in mediating proximal renal tubular acidosis.
3 thy, primary hyperparathyroidism, and distal renal tubular acidosis.
4  TM1 impairs ion transport, causing proximal renal tubular acidosis.
5 lead to the human diseases osteopetrosis and renal tubular acidosis.
6 sed serum pH, consistent with a diagnosis of 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 arly-onset sensorineural deafness and distal renal tubular acidosis.
12 er featuring hypertension, hyperkalemia, and renal tubular acidosis.
13 iency due to a point mutation also manifests renal tubular acidosis.
14 ns in this syndrome, which involves proximal renal tubular acidosis.
15 ni, Gitelman, and Bartter-like syndromes and renal tubular acidosis.
16 ent for diseases such as proximal and distal renal tubular acidosis.
17 K(+) excretion and development of a proximal renal tubular acidosis.
18  distal nephron acid secretion, cause distal renal tubular acidosis, a condition characterized by imp
19 Cs is evident in patients with inborn distal renal tubular acidosis and ATP6V1B1 mutations.
20 main of NBCe1 (SLC4A4) is linked to proximal renal tubular acidosis and results in impaired transport
21 tosomal recessive syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification.
22 mal recessive syndrome of osteopetrosis with renal tubular acidosis, and familial renal hypomagnesemi
23 t disease in patients lacking the cataracts, renal tubular acidosis, and neurological abnormalities t
24  It has been implicated in tumor metastasis, renal tubular acidosis, and osteoporosis.
25  cystic fibrosis, growth hormone deficiency, renal tubular acidosis, and small for gestational age wi
26  discuss why not all gene defects that cause renal tubular acidosis are associated with hypercalciuri
27  role in hereditary spherocytosis and distal renal tubular acidosis are described.
28            Glaucoma, cataracts, and proximal renal tubular acidosis are diseases caused by point muta
29 on of renal concentration defects and distal renal tubular acidosis as a result of impaired V-ATPase
30 eletion of Slc26a7 expression develop distal renal tubular acidosis, as manifested by metabolic acido
31                                  The form of renal tubular acidosis associated with hyperkalemia is u
32                                   The distal renal tubular acidosis-associated AE1 901X mutant exhibi
33                    Autosomal dominant distal renal tubular acidosis (ddRTA) is caused by mutations in
34 omal-dominant and -recessive forms of distal renal tubular acidosis (dRTA) are caused by mutations in
35                   Autosomal recessive distal renal tubular acidosis (dRTA) is a severe disorder of ac
36                                       Distal renal tubular acidosis (dRTA) is characterized by defect
37                               Primary distal renal tubular acidosis (dRTA) is characterized by reduce
38 cally reduced renal acid excretion in distal renal tubular acidosis (dRTA) may lead to nephrocalcinos
39 ercalated cells (ICs) leads to type I distal renal tubular acidosis (dRTA), a disease associated with
40 ren's syndrome and a secretory-defect distal renal tubular acidosis (dRTA), absence of vacuolar H(+)-
41     The primary or hereditary form of distal renal tubular acidosis (dRTA), although rare, has receiv
42  by the collecting duct system causes distal renal tubular acidosis (dRTA), which is characterized by
43 ne ATP6V1B1 cause autosomal-recessive distal renal tubular acidosis (dRTA).
44 meostasis and, when defective, causes distal renal tubular acidosis (dRTA).
45 calated cell cause autosomal dominant distal renal tubular acidosis (dRTA).
46 he consequent development of complete distal renal tubular acidosis (dRTA).
47 lenge showed the child has incomplete distal renal tubular acidosis (dRTA).
48 ons that lead to inheritable forms of distal renal tubular acidosis (dRTA).
49  a4 subunit isoforms, cause recessive distal renal tubular acidosis (dRTA).
50 ions of the human ATP6V1B1 gene cause distal renal tubular acidosis (dRTA; OMIM #267300) often associ
51 ns in the B1 subunit (ATP6V1B1) cause distal renal tubular acidosis due to its role in acid secretory
52 ith a clinical diagnosis of inherited distal renal tubular acidosis has no identified causative mutat
53 s protons in the distal nephron cause distal renal tubular acidosis in humans, a condition characteri
54                NBC1 mutations cause proximal renal tubular acidosis in humans, consistent with its ro
55 n shown to cause an inherited form of distal renal tubular acidosis in humans.
56 city led to hypophosphataemic rickets and/or renal tubular acidosis in six children, and distal tubul
57 usses a likely mechanism for dominant distal renal tubular acidosis in which associations between the
58          The involvement of band 3 in distal renal tubular acidosis is reviewed.
59 ions including primary aldosteronism, distal renal tubular acidosis, Liddle's disease, apparent miner
60 (2) dose level, renal dysfunction resembling renal tubular acidosis occurred in four of 10 patients a
61 d as a potential cause of unexplained distal renal tubular acidosis or decreased gastric acid secreti
62  the later stages of chronic kidney disease, renal tubular acidosis, or chronic diarrhea, bone buffer
63 y in humans is associated with a syndrome of renal tubular acidosis, osteopetrosis, and cerebral calc
64 on, and various disease processes, including renal tubular acidosis, osteopetrosis, and tumor metasta
65                                     Proximal renal tubular acidosis (pRTA) is a rare, recessively-inh
66                                     Proximal renal tubular acidosis (pRTA) is a syndrome caused by ab
67 ecessive mutations in SLC4A4 causes proximal renal tubular acidosis (pRTA), a disease characterized b
68  in the bicarbonate-wasting disease proximal renal tubular acidosis (pRTA).
69 e mutations in NBCe1-A cause severe proximal renal tubular acidosis (pRTA).
70 99Val) in an individual with severe proximal renal tubular acidosis (pRTA; usually associated with de
71 tosis, south-east Asian ovalocytosis, distal renal tubular acidosis, Rhnull), associated with both st
72 terized by low molecular weight proteinuria, renal tubular acidosis (RTA), aminoaciduria, and hyperca
73 , poor growth, gastrointestinal dysmotility, renal tubular acidosis, seizures, and episodic metabolic
74 bulatory setting, particularly patients with renal tubular acidosis syndromes or diarrhea.
75 h severe intrauterine growth retardation and renal tubular acidosis was excluded.
76 the proximal tubule in the context of distal renal tubular acidosis will require further clarificatio
77  monogenic kidney stone disorders, including renal tubular acidosis with deafness, Bartter syndrome,