Sly WS - Search Results

1

A novel neurological disorder with progressive CNS calcification, deafness, renal tubular acidosis, and microcytic anemia.

Yoshimura M, Hara T, Maegaki Y, Koeda T, Okubo K, Hamasaki N, Sly WS, Takeshita K. Yoshimura M, et al. Among authors: sly ws. Dev Med Child Neurol. 1997 Mar;39(3):198-201. doi: 10.1111/j.1469-8749.1997.tb07410.x. Dev Med Child Neurol. 1997. PMID: 9112970 Free article.

2

Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters.

Whyte MP, Murphy WA, Fallon MD, Sly WS, Teitelbaum SL, McAlister WH, Avioli LV. Whyte MP, et al. Among authors: sly ws. Am J Med. 1980 Jul;69(1):64-74. doi: 10.1016/0002-9343(80)90501-x. Am J Med. 1980. PMID: 7386510

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. Sly WS, et al. N Engl J Med. 1985 Jul 18;313(3):139-45. doi: 10.1056/NEJM198507183130302. N Engl J Med. 1985. PMID: 3925334

4

Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification.

Ohlsson A, Cumming WA, Paul A, Sly WS. Ohlsson A, et al. Among authors: sly ws. Pediatrics. 1986 Mar;77(3):371-81. Pediatrics. 1986. PMID: 3081869

5

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

Sly WS, Hewett-Emmett D, Whyte MP, Yu YS, Tashian RE. Sly WS, et al. Proc Natl Acad Sci U S A. 1983 May;80(9):2752-6. doi: 10.1073/pnas.80.9.2752. Proc Natl Acad Sci U S A. 1983. PMID: 6405388 Free PMC article.

6

Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.

Shah GN, Bonapace G, Hu PY, Strisciuglio P, Sly WS. Shah GN, et al. Among authors: sly ws. Hum Mutat. 2004 Sep;24(3):272. doi: 10.1002/humu.9266. Hum Mutat. 2004. PMID: 15300855

7

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

Sly WS, Sato S, Zhu XL. Sly WS, et al. Clin Biochem. 1991 Aug;24(4):311-8. doi: 10.1016/0009-9120(91)80005-n. Clin Biochem. 1991. PMID: 1959222 Review.

8

Transfusion of carbonic anhydrase-replete erythrocytes fails to correct the acidification defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification (carbonic anhydrase-II deficiency).

Whyte MP, Hamm LL 3rd, Sly WS. Whyte MP, et al. Among authors: sly ws. J Bone Miner Res. 1988 Aug;3(4):385-8. doi: 10.1002/jbmr.5650030404. J Bone Miner Res. 1988. PMID: 3146897

9

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. Borthwick KJ, et al. Among authors: sly ws. J Med Genet. 2003 Feb;40(2):115-21. doi: 10.1136/jmg.40.2.115. J Med Genet. 2003. PMID: 12566520 Free PMC article.

10

Failure of acetazolamide to decrease intraocular pressure in patients with carbonic anhydrase II deficiency.

Krupin T, Sly WS, Whyte MP, Dodgson SJ. Krupin T, et al. Among authors: sly ws. Am J Ophthalmol. 1985 Apr 15;99(4):396-9. doi: 10.1016/0002-9394(85)90004-2. Am J Ophthalmol. 1985. PMID: 3920916

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