Sly WS - Search Results

1

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

2

Positive renal response to intravenous acetazolamide in patients with carbonic anhydrase II deficiency.

Sly WS, Whyte MP, Krupin T, Sundaram V. Sly WS, et al. Pediatr Res. 1985 Oct;19(10):1033-6. doi: 10.1203/00006450-198510000-00017. Pediatr Res. 1985. PMID: 3932950

3

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

4

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

5

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

6

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.

7

The value of inherited deficiencies of human carbonic anhydrase isozymes in understanding their cellular roles.

Tashian RE, Hewett-Emmett D, Dodgson SJ, Forster RE 2nd, Sly WS. Tashian RE, et al. Among authors: sly ws. Ann N Y Acad Sci. 1984;429:262-75. doi: 10.1111/j.1749-6632.1984.tb12346.x. Ann N Y Acad Sci. 1984. PMID: 6430166 Free article.

8

Carbonic anhydrase activity of intact carbonic anhydrase II-deficient human erythrocytes.

Dodgson SJ, Forster RE 2nd, Sly WS, Tashian RE. Dodgson SJ, et al. Among authors: sly ws. J Appl Physiol (1985). 1988 Oct;65(4):1472-80. doi: 10.1152/jappl.1988.65.4.1472. J Appl Physiol (1985). 1988. PMID: 2846496

9

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).

Whyte MP, McAlister WH, Fallon MD, Pierpont ME, Bijanki VN, Duan S, Otaify GA, Sly WS, Mumm S. Whyte MP, et al. Among authors: sly ws. J Bone Miner Res. 2017 Apr;32(4):757-769. doi: 10.1002/jbmr.3034. Epub 2016 Dec 14. J Bone Miner Res. 2017. PMID: 27862258 Free article.

10

Mucopolysaccharidosis VII: postmortem biochemical and pathological findings in a young adult with beta-glucuronidase deficiency.

Vogler C, Levy B, Kyle JW, Sly WS, Williamson J, Whyte MP. Vogler C, et al. Among authors: sly ws. Mod Pathol. 1994 Jan;7(1):132-7. Mod Pathol. 1994. PMID: 8159643

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