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Items: 1 to 20 of 238

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.

2.

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.

Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, Ozen S, Mocan H, Shah GN, Sly WS, Karet FE.

J Med Genet. 2003 Feb;40(2):115-21.

3.

Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

Sly WS, Whyte MP, Sundaram V, Tashian RE, Hewett-Emmett D, Guibaud P, Vainsel M, Baluarte HJ, Gruskin A, Al-Mosawi M, et al.

N Engl J Med. 1985 Jul 18;313(3):139-45.

PMID:
3925334
5.
6.

Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?

Sh Ali AA, Al-Mashta SA.

Saudi J Kidney Dis Transpl. 2013 May;24(3):561-5.

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9.

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.

PMID:
8127074
10.
11.

A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.

Hu PY, Roth DE, Skaggs LA, Venta PJ, Tashian RE, Guibaud P, Sly WS.

Hum Mutat. 1992;1(4):288-92.

PMID:
1301935
12.

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.

PMID:
16382316
13.

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. doi: 10.1093/brain/awr302.

15.

Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families.

Pang Q, Qi X, Jiang Y, Wang O, Li M, Xing X, Dong J, Xia W.

Metab Brain Dis. 2015 Aug;30(4):989-97. doi: 10.1007/s11011-015-9660-6.

PMID:
25720518
16.

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.

PMID:
7959703
17.

Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family.

Strisciuglio P, Hu PY, Lim EJ, Ciccolella J, Sly WS.

J Pediatr. 1998 Apr;132(4):717-20.

PMID:
9580777
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Carbonic anhydrase II deficiency a novel mutation.

Nampoothiri S, Anikster Y.

Indian Pediatr. 2009 Jun;46(6):532-4.

20.

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.

PMID:
9323296
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