McCabe ER - Search Results

1

Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.

Bartley JA, Miller DK, Hayford JT, McCabe ER. Bartley JA, et al. Among authors: mccabe er. Lancet. 1982 Oct 2;2(8301):733-6. doi: 10.1016/s0140-6736(82)90921-7. Lancet. 1982. PMID: 6125810 No abstract available.

2

Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency.

Wise JE, Matalon R, Morgan AM, McCabe ER. Wise JE, et al. Among authors: mccabe er. Am J Dis Child. 1987 Jul;141(7):744-7. doi: 10.1001/archpedi.1987.04460070046020. Am J Dis Child. 1987. PMID: 3035918

3

Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities.

Guggenheim MA, McCabe ER, Roig M, Goodman SI, Lum GM, Bullen WW, Ringel SP. Guggenheim MA, et al. Among authors: mccabe er. Ann Neurol. 1980 May;7(5):441-9. doi: 10.1002/ana.410070509. Ann Neurol. 1980. PMID: 6249182

4

Adrenal dysfunction in glycerol kinase deficiency.

Seltzer WK, Firminger H, Klein J, Pike A, Fennessey P, McCabe ER. Seltzer WK, et al. Among authors: mccabe er. Biochem Med. 1985 Apr;33(2):189-99. doi: 10.1016/0006-2944(85)90027-4. Biochem Med. 1985. PMID: 2988520 Review.

5

Human glycerol kinase deficiency: an inborn error of compartmental metabolism.

McCabe ER. McCabe ER. Biochem Med. 1983 Oct;30(2):215-30. doi: 10.1016/0006-2944(83)90088-1. Biochem Med. 1983. PMID: 6316939

6

Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.

Francke U, Harper JF, Darras BT, Cowan JM, McCabe ER, Kohlschütter A, Seltzer WK, Saito F, Goto J, Harpey JP, et al. Francke U, et al. Among authors: mccabe er. Am J Hum Genet. 1987 Mar;40(3):212-27. Am J Hum Genet. 1987. PMID: 2883886 Free PMC article.

7

Human glycerol kinase deficiency: enzyme kinetics and fibroblast hybridization.

McCabe ER, Sadava D, Bullen WW, McKelvey HA, Seltzer WK, Rose CI. McCabe ER, et al. J Inherit Metab Dis. 1982;5(4):177-82. doi: 10.1007/BF02179133. J Inherit Metab Dis. 1982. PMID: 6302392

8

Glycerol kinase deficiency: compartmental considerations regarding pathogenesis and clinical heterogeneity.

McCabe ER, Seltzer WK. McCabe ER, et al. Adv Exp Med Biol. 1986;194:481-93. doi: 10.1007/978-1-4684-5107-8_36. Adv Exp Med Biol. 1986. PMID: 3019103 Review. No abstract available.

9

Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.

McCabe ER, Towbin J, Chamberlain J, Baumbach L, Witkowski J, van Ommen GJ, Koenig M, Kunkel LM, Seltzer WK. McCabe ER, et al. J Clin Invest. 1989 Jan;83(1):95-9. doi: 10.1172/JCI113890. J Clin Invest. 1989. PMID: 2536049 Free PMC article.

10

Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria.

McCabe ER, Fennessey PV, Guggenheim MA, Miles BS, Bullen WW, Sceats DJ, Goodman SI. McCabe ER, et al. Biochem Biophys Res Commun. 1977 Oct 24;78(4):1327-33. doi: 10.1016/0006-291x(77)91437-1. Biochem Biophys Res Commun. 1977. PMID: 200232 No abstract available.

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