Garavaglia B - Search Results

1

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.

Leoni V, Strittmatter L, Zorzi G, Zibordi F, Dusi S, Garavaglia B, Venco P, Caccia C, Souza AL, Deik A, Clish CB, Rimoldi M, Ciusani E, Bertini E, Nardocci N, Mootha VK, Tiranti V. Leoni V, et al. Among authors: garavaglia b. Mol Genet Metab. 2012 Mar;105(3):463-71. doi: 10.1016/j.ymgme.2011.12.005. Epub 2011 Dec 14. Mol Genet Metab. 2012. PMID: 22221393 Free PMC article.

2

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

3

[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.

4

Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype.

Garavaglia B, Colamaria V, Carrara F, Tonin P, Rimoldi M, Uziel G. Garavaglia B, et al. J Inherit Metab Dis. 1994;17(3):301-3. doi: 10.1007/BF00711813. J Inherit Metab Dis. 1994. PMID: 7807937 No abstract available.

5

Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency.

Antozzi C, Garavaglia B, Mora M, Rimoldi M, Morandi L, Ursino E, DiDonato S. Antozzi C, et al. Among authors: garavaglia b. Neurology. 1994 Nov;44(11):2153-8. doi: 10.1212/wnl.44.11.2153. Neurology. 1994. PMID: 7969976

6

Hypoparathyroidism in mitochondrial trifunctional protein deficiency.

Dionisi-Vici C, Garavaglia B, Burlina AB, Bertini E, Saponara I, Sabetta G, Taroni F. Dionisi-Vici C, et al. Among authors: garavaglia b. J Pediatr. 1996 Jul;129(1):159-62. doi: 10.1016/s0022-3476(96)70206-8. J Pediatr. 1996. PMID: 8757579

7

Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy.

Uziel G, Garavaglia B, Ciceri E, Moroni I, Rimoldi M. Uziel G, et al. Among authors: garavaglia b. Pediatr Neurol. 1995 Nov;13(4):333-5. doi: 10.1016/0887-8994(95)00187-5. Pediatr Neurol. 1995. PMID: 8771170

8

Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria.

Minetti C, Garavaglia B, Bado M, Invernizzi F, Bruno C, Rimoldi M, Pons R, Taroni F, Cordone G. Minetti C, et al. Among authors: garavaglia b. Neuromuscul Disord. 1998 Feb;8(1):3-6. doi: 10.1016/s0960-8966(97)00121-1. Neuromuscul Disord. 1998. PMID: 9565984

9

Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.

Busquets C, Soriano M, de Almeida IT, Garavaglia B, Rimoldi M, Rivera I, Uziel G, Cabral A, Coll MJ, Ribes A. Busquets C, et al. Among authors: garavaglia b. Mol Genet Metab. 2000 Nov;71(3):535-7. doi: 10.1006/mgme.2000.3082. Mol Genet Metab. 2000. PMID: 11073722

10

Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.

Zorzi G, Garavaglia B, Invernizzi F, Girotti F, Soliveri P, Zeviani M, Angelini L, Nardocci N. Zorzi G, et al. Among authors: garavaglia b. Mov Disord. 2002 Mar;17(2):407-8. doi: 10.1002/mds.10045. Mov Disord. 2002. PMID: 11921134

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