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24. Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus. Fathallah DM; Bejaoui M; Lepaslier D; Chater K; Sly WS; Dellagi K Hum Genet; 1997 May; 99(5):634-7. PubMed ID: 9150731 [TBL] [Abstract][Full Text] [Related]
25. A point mutation in exon 3 (His 107-->Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement. Soda H; Yukizane S; Yoshida I; Koga Y; Aramaki S; Kato H Hum Genet; 1996 Apr; 97(4):435-7. PubMed ID: 8834238 [TBL] [Abstract][Full Text] [Related]
26. Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency: pathogenesis of impaired acidification. Nagai R; Kooh SW; Balfe JW; Fenton T; Halperin ML Pediatr Nephrol; 1997 Oct; 11(5):633-6. PubMed ID: 9323296 [TBL] [Abstract][Full Text] [Related]
27. Failure of acetazolamide to decrease intraocular pressure in patients with carbonic anhydrase II deficiency. Krupin T; Sly WS; Whyte MP; Dodgson SJ Am J Ophthalmol; 1985 Apr; 99(4):396-9. PubMed ID: 3920916 [TBL] [Abstract][Full Text] [Related]
28. 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; 97(7):1947-50. PubMed ID: 11264157 [TBL] [Abstract][Full Text] [Related]
29. A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent. Fathallah DM; Bejaoui M; Sly WS; Lakhoua R; Dellagi K Hum Genet; 1994 Nov; 94(5):581-2. PubMed ID: 7959703 [TBL] [Abstract][Full Text] [Related]
30. Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene. Venta PJ; Welty RJ; Johnson TM; Sly WS; Tashian RE Am J Hum Genet; 1991 Nov; 49(5):1082-90. PubMed ID: 1928091 [TBL] [Abstract][Full Text] [Related]
31. Carbonic anhydrase II deficiency in three unrelated Japanese patients. Aramaki S; Yoshida I; Yoshino M; Kondo M; Sato Y; Noda K; Jo R; Okue A; Sai N; Yamashita F J Inherit Metab Dis; 1993; 16(6):982-90. PubMed ID: 8127074 [TBL] [Abstract][Full Text] [Related]
32. Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients. Sato S; Zhu XL; Sly WS Proc Natl Acad Sci U S A; 1990 Aug; 87(16):6073-6. PubMed ID: 2117271 [TBL] [Abstract][Full Text] [Related]
33. Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome. Ismail EA; Abul Saad S; Sabry MA Eur J Pediatr; 1997 Dec; 156(12):957-62. PubMed ID: 9453381 [TBL] [Abstract][Full Text] [Related]
34. Allogenic hematopoietic stem cell transplantation in an Iranian patient with osteopetrosis caused by carbonic anhydrase II deficiency: A case report. Shamsian BS; Momtazmanesh N; Saneifard H; Tabatabaei SMTH; Jafari M; Pour ZK; Al-Hussieni KJMR; Jamee M; Kamfar S Pediatr Transplant; 2024 May; 28(3):e14689. PubMed ID: 38655726 [TBL] [Abstract][Full Text] [Related]
35. Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome. Lotan D; Eisenkraft A; Jacobsson JM; Bar-Yosef O; Kleta R; Gal N; Raviv-Zilka L; Gore H; Anikster Y Pediatr Nephrol; 2006 Mar; 21(3):423-6. PubMed ID: 16382316 [TBL] [Abstract][Full Text] [Related]
36. Positive renal response to intravenous acetazolamide in patients with carbonic anhydrase II deficiency. Sly WS; Whyte MP; Krupin T; Sundaram V Pediatr Res; 1985 Oct; 19(10):1033-6. PubMed ID: 3932950 [TBL] [Abstract][Full Text] [Related]
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38. The neurology of carbonic anhydrase type II deficiency syndrome. Bosley TM; Salih MA; Alorainy IA; Islam MZ; Oystreck DT; Suliman OS; al Malki S; Suhaibani AH; Khiari H; Beckers S; van Wesenbeeck L; Perdu B; AlDrees A; Elmalik SA; Van Hul W; Abu-Amero KK Brain; 2011 Dec; 134(Pt 12):3502-15. PubMed ID: 22120147 [TBL] [Abstract][Full Text] [Related]
39. Proteomic Profiling of the First Human Dental Pulp Mesenchymal Stem/Stromal Cells from Carbonic Anhydrase II Deficiency Osteopetrosis Patients. Alkhayal Z; Shinwari Z; Gaafar A; Alaiya A Int J Mol Sci; 2020 Dec; 22(1):. PubMed ID: 33396517 [TBL] [Abstract][Full Text] [Related]
40. The syndrome of osteopetrosis, renal acidosis and cerebral calcification in two sisters. Al Rajeh S; el Mouzan MI; Ahlberg A; Ozaksoy D Neuropediatrics; 1988 Aug; 19(3):162-5. PubMed ID: 3221988 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]