DiMauro S - Search Results

1

Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency.

Burlina AB, Milanesi O, Biban P, Bordugo A, Garavaglia B, Zacchello F, DiMauro S. Burlina AB, et al. Among authors: dimauro s. Eur J Pediatr. 1993 Jun;152(6):537. doi: 10.1007/BF01955069. Eur J Pediatr. 1993. PMID: 8392936 No abstract available.

2

The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy.

Bruno C, Kirby DM, Koga Y, Garavaglia B, Duran G, Santorelli FM, Shield LK, Xia W, Shanske S, Goldstein JD, Iwanaga R, Akita Y, Carrara F, Davis A, Zeviani M, Thorburn DR, DiMauro S. Bruno C, et al. Among authors: dimauro s. J Pediatr. 1999 Aug;135(2 Pt 1):197-202. doi: 10.1016/s0022-3476(99)70022-3. J Pediatr. 1999. PMID: 10431114 Free article.

3

Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport.

Waber LJ, Valle D, Neill C, DiMauro S, Shug A. Waber LJ, et al. Among authors: dimauro s. J Pediatr. 1982 Nov;101(5):700-5. doi: 10.1016/s0022-3476(82)80294-1. J Pediatr. 1982. PMID: 7131143

4

Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency.

Servidei S, Metlay LA, Chodosh J, DiMauro S. Servidei S, et al. Among authors: dimauro s. J Pediatr. 1988 Jul;113(1 Pt 1):82-5. doi: 10.1016/s0022-3476(88)80535-3. J Pediatr. 1988. PMID: 3385534 Free article. No abstract available.

5

Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria.

Minetti C, Tanji K, Chang HW, Medori R, Cordone G, DiMauro S, Bonilla E. Minetti C, et al. Among authors: dimauro s. Eur J Pediatr. 1993 Oct;152(10):848-51. doi: 10.1007/BF02073385. Eur J Pediatr. 1993. PMID: 8223790

6

Severe cardiopathy in branching enzyme deficiency.

Servidei S, Riepe RE, Langston C, Tani LY, Bricker JT, Crisp-Lindgren N, Travers H, Armstrong D, DiMauro S. Servidei S, et al. Among authors: dimauro s. J Pediatr. 1987 Jul;111(1):51-6. doi: 10.1016/s0022-3476(87)80341-4. J Pediatr. 1987. PMID: 3474393

7

Benign reversible muscle cytochrome c oxidase deficiency: a second case.

Zeviani M, Peterson P, Servidei S, Bonilla E, DiMauro S. Zeviani M, et al. Among authors: dimauro s. Neurology. 1987 Jan;37(1):64-7. doi: 10.1212/wnl.37.1.64. Neurology. 1987. PMID: 3025776

8

Cytochrome c oxidase deficiency in Leigh syndrome.

DiMauro S, Servidei S, Zeviani M, DiRocco M, DeVivo DC, DiDonato S, Uziel G, Berry K, Hoganson G, Johnsen SD, et al. DiMauro S, et al. Ann Neurol. 1987 Oct;22(4):498-506. doi: 10.1002/ana.410220409. Ann Neurol. 1987. PMID: 2829705

9

Cytochrome c oxidase deficiency in muscle with dicarboxylic aciduria and renal tubular acidosis.

Pintos-Morell G, Haas R, Prodanos C, DiMauro S, Nyhan WL. Pintos-Morell G, et al. Among authors: dimauro s. J Child Neurol. 1990 Apr;5(2):147-52. doi: 10.1177/088307389000500216. J Child Neurol. 1990. PMID: 2161032

10

Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency.

Zeviani M, Van Dyke DH, Servidei S, Bauserman SC, Bonilla E, Beaumont ET, Sharda J, VanderLaan K, DiMauro S. Zeviani M, et al. Among authors: dimauro s. Arch Neurol. 1986 Nov;43(11):1198-202. doi: 10.1001/archneur.1986.00520110084025. Arch Neurol. 1986. PMID: 3022695

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