Garavaglia B - Search Results

1

Molecular heterogeneity of beta-ETF deficiency in glutaric aciduria type II.

Colombo I, DiDonato S, Volta M, Gellera C, Garavaglia B, Montermini L, Yamaguchi S, Goodman SI, Frerman FE, Finocchiaro G. Colombo I, et al. Among authors: garavaglia b. Prog Clin Biol Res. 1992;375:561-6. Prog Clin Biol Res. 1992. PMID: 1438399 No abstract available.

2

Biochemical and molecular studies of carnitine palmitoyltransferase II deficiency with hepatocardiomyopathic presentation.

Taroni F, Verderio E, Garavaglia B, Fiorucci S, Finocchiaro G, Uziel G, DiDonato S. Taroni F, et al. Among authors: garavaglia b. Prog Clin Biol Res. 1992;375:521-31. Prog Clin Biol Res. 1992. PMID: 1438396 No abstract available.

3

Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.

Bertini E, Dionisi-Vici C, Garavaglia B, Burlina AB, Sabatelli M, Rimoldi M, Bartuli A, Sabetta G, DiDonato S. Bertini E, et al. Among authors: garavaglia b. Eur J Pediatr. 1992 Feb;151(2):121-6. doi: 10.1007/BF01958956. Eur J Pediatr. 1992. PMID: 1537353

4

[Metabolic myopathies].

Finocchiaro G, Zeviani M, Garavaglia B, Gellera C, Bertagnolio B, Rimoldi M, Di Donato S. Finocchiaro G, et al. Among authors: garavaglia b. Minerva Pediatr. 1991 Mar;43(3):81-9. Minerva Pediatr. 1991. PMID: 1870530 Italian. No abstract available.

5

Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation.

Garavaglia B, Uziel G, Dworzak F, Carrara F, DiDonato S. Garavaglia B, et al. Neurology. 1991 Oct;41(10):1691-3. doi: 10.1212/wnl.41.10.1691. Neurology. 1991. PMID: 1922823

6

Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: use of stress and fat-loading tests.

Parini R, Garavaglia B, Saudubray JM, Bardelli P, Melotti D, Zecca G, Di Donato S. Parini R, et al. Among authors: garavaglia b. J Pediatr. 1991 Jul;119(1 Pt 1):77-80. doi: 10.1016/s0022-3476(05)81044-3. J Pediatr. 1991. PMID: 2066862 No abstract available.

7

Purification and properties of carnitine acetyltransferase from human liver.

Bloisi W, Colombo I, Garavaglia B, Giardini R, Finocchiaro G, Didonato S. Bloisi W, et al. Among authors: garavaglia b. Eur J Biochem. 1990 May 20;189(3):539-46. doi: 10.1111/j.1432-1033.1990.tb15520.x. Eur J Biochem. 1990. PMID: 2351134 Free article.

8

Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides.

Di Donato S, Garavaglia B, Strisciuglio P, Borrone C, Andria G. Di Donato S, et al. Among authors: garavaglia b. Neurology. 1988 Jul;38(7):1107-10. doi: 10.1212/wnl.38.7.1107. Neurology. 1988. PMID: 3386830

9

Carnitine stimulation of pyruvate dehydrogenase complex (PDHC) in isolated human skeletal muscle mitochondria.

Uziel G, Garavaglia B, Di Donato S. Uziel G, et al. Among authors: garavaglia b. Muscle Nerve. 1988 Jul;11(7):720-4. doi: 10.1002/mus.880110708. Muscle Nerve. 1988. PMID: 3405240

10

Systemic carnitine deficiency: clinical, biochemical, and morphological cure with L-carnitine.

Di Donato S, Pelucchetti D, Rimoldi M, Mora M, Garavaglia B, Finocchiaro G. Di Donato S, et al. Among authors: garavaglia b. Neurology. 1984 Feb;34(2):157-62. doi: 10.1212/wnl.34.2.157. Neurology. 1984. PMID: 6538002

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