Whyte MP - Search Results

1

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. Among authors: whyte mp. 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.

2

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. J Bone Miner Res. 1988 Aug;3(4):385-8. doi: 10.1002/jbmr.5650030404. J Bone Miner Res. 1988. PMID: 3146897

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. Among authors: whyte mp. N Engl J Med. 1985 Jul 18;313(3):139-45. doi: 10.1056/NEJM198507183130302. N Engl J Med. 1985. PMID: 3925334

4

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. Am J Med. 1980 Jul;69(1):64-74. doi: 10.1016/0002-9343(80)90501-x. Am J Med. 1980. PMID: 7386510

5

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: whyte mp. Am J Ophthalmol. 1985 Apr 15;99(4):396-9. doi: 10.1016/0002-9394(85)90004-2. Am J Ophthalmol. 1985. PMID: 3920916

6

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. Among authors: whyte mp. Pediatr Res. 1985 Oct;19(10):1033-6. doi: 10.1203/00006450-198510000-00017. Pediatr Res. 1985. PMID: 3932950

7

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. 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.

8

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: whyte mp. Mod Pathol. 1994 Jan;7(1):132-7. Mod Pathol. 1994. PMID: 8159643

9

Carbonic anhydrase II deficiency.

Whyte MP. Whyte MP. Clin Orthop Relat Res. 1993 Sep;(294):52-63. Clin Orthop Relat Res. 1993. PMID: 8358947 Review.

10

A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.

Weiss MJ, Cole DE, Ray K, Whyte MP, Lafferty MA, Mulivor RA, Harris H. Weiss MJ, et al. Among authors: whyte mp. Proc Natl Acad Sci U S A. 1988 Oct;85(20):7666-9. doi: 10.1073/pnas.85.20.7666. Proc Natl Acad Sci U S A. 1988. PMID: 3174660 Free PMC article.

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