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Results: 1 to 20 of 49

1.

Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome.

McMahon C, Will A, Hu P, Shah GN, Sly WS, Smith OP.

Blood. 2001 Apr 1;97(7):1947-50.

PMID:
11264157
[PubMed - indexed for MEDLINE]
Free Article
2.

[Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases].

Cochat P, Loras-Duclaux I, Guibaud P.

Pediatrie. 1987;42(2):121-8. Review. French.

PMID:
3112731
[PubMed - indexed for MEDLINE]
3.

Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis.

Sly WS, Sato S, Zhu XL.

Clin Biochem. 1991 Aug;24(4):311-8. Review.

PMID:
1959222
[PubMed - indexed for MEDLINE]
4.

Recent developments in the understanding of the pathophysiology of osteopetrosis.

Felix R, Hofstetter W, Cecchini MG.

Eur J Endocrinol. 1996 Feb;134(2):143-56. Review.

PMID:
8630510
[PubMed - indexed for MEDLINE]
5.

Carbonic anhydrase II deficiency.

Whyte MP.

Clin Orthop Relat Res. 1993 Sep;(294):52-63. Review.

PMID:
8358947
[PubMed - indexed for MEDLINE]
6.

Osteopetrosis, renal tubular acidosis without urinary concentration abnormality, cerebral calcification and severe mental retardation in three Turkish brothers.

Ocal G, Berberoğlu M, Adiyaman P, Cetinkaya E, Ekim M, Aycan Z, Evliyaoğlu O.

J Pediatr Endocrinol Metab. 2001 Nov-Dec;14(9):1671-7. Review.

PMID:
11795660
[PubMed - indexed for MEDLINE]
7.

Variable clinical presentation of carbonic anhydrase deficiency: evidence for heterogeneity?

Strisciuglio P, Sartorio R, Pecoraro C, Lotito F, Sly WS.

Eur J Pediatr. 1990 Feb;149(5):337-40. Review.

PMID:
2107079
[PubMed - indexed for MEDLINE]
8.

Genetic causes and mechanisms of distal renal tubular acidosis.

Batlle D, Haque SK.

Nephrol Dial Transplant. 2012 Oct;27(10):3691-704. doi: 10.1093/ndt/gfs442. Review.

PMID:
23114896
[PubMed - indexed for MEDLINE]
Free Article
9.

[Carbonic anhydrase II deficiency].

Murakami H, Aramaki S, Yoshino M.

Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):622-3. Review. Japanese. No abstract available.

PMID:
9645149
[PubMed - indexed for MEDLINE]
10.

Towards a better understanding and new therapeutics of osteopetrosis.

Askmyr MK, Fasth A, Richter J.

Br J Haematol. 2008 Mar;140(6):597-609. doi: 10.1111/j.1365-2141.2008.06983.x. Epub 2008 Feb 1. Review.

PMID:
18241253
[PubMed - indexed for MEDLINE]
11.

Inherited disorders of the H+-ATPase.

Borthwick KJ, Karet FE.

Curr Opin Nephrol Hypertens. 2002 Sep;11(5):563-8. Review.

PMID:
12187322
[PubMed - indexed for MEDLINE]
12.

Prospects for gene therapy of osteopetrosis.

Askmyr M, Flores C, Fasth A, Richter J.

Curr Gene Ther. 2009 Jun;9(3):150-9. Review.

PMID:
19519360
[PubMed - indexed for MEDLINE]
13.

Osteopetrosis.

Stark Z, Savarirayan R.

Orphanet J Rare Dis. 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. Review.

PMID:
19232111
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.

Rodríguez-Soriano J.

Pediatr Nephrol. 2000 Oct;14(12):1121-36. Review.

PMID:
11045400
[PubMed - indexed for MEDLINE]
15.

Congenital osteopetrotic mutations as probes of the origin, structure, and function of osteoclasts.

Marks SC Jr.

Clin Orthop Relat Res. 1984 Oct;(189):239-63. Review.

PMID:
6434217
[PubMed - indexed for MEDLINE]
16.

[Bone marrow transplantation in primary immunodeficiency syndrome and in osteopetrosis].

Fasth A.

Nord Med. 1995;110(12):316-7. Review. Swedish.

PMID:
8524633
[PubMed - indexed for MEDLINE]
17.

Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation.

Fasth A, Porras O.

Pediatr Transplant. 1999;3 Suppl 1:102-7. Review.

PMID:
10587979
[PubMed - indexed for MEDLINE]
18.

[Carbonic anhydrase II deficiency and Fanconi syndrome: Pathogenesis, pathophysiology, and therapy].

Sanaka T.

Nihon Rinsho. 2006 Feb;64 Suppl 2:509-12. Review. Japanese. No abstract available.

PMID:
16523944
[PubMed - indexed for MEDLINE]
19.

Osteopetrosis.

Stoker DJ.

Semin Musculoskelet Radiol. 2002 Dec;6(4):299-305. Review.

PMID:
12541186
[PubMed - indexed for MEDLINE]
20.

Molecular basis of proximal renal tubular acidosis.

Igarashi T, Sekine T, Watanabe H.

J Nephrol. 2002 Mar-Apr;15 Suppl 5:S135-41. Review.

PMID:
12027212
[PubMed - indexed for MEDLINE]

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