Garavaglia B - Search Results

1

Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency.

Briones P, Garavaglia B, Ribes A, Yoldi ME, Rodés M, Romero C, García-Bragado F. Briones P, et al. Among authors: garavaglia b. J Inherit Metab Dis. 1995;18(2):237-40. doi: 10.1007/BF00711777. J Inherit Metab Dis. 1995. PMID: 7564257 No abstract available.

2

Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency.

Ribes A, Riudor E, Garavaglia B, Martinez G, Arranz A, Invernizzi F, Briones P, Lamantea E, Sentís M, Barceló A, Roig M. Ribes A, et al. Among authors: garavaglia b. Eur J Pediatr. 1998 Apr;157(4):317-20. doi: 10.1007/s004310050819. Eur J Pediatr. 1998. PMID: 9578969

3

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

4

Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency.

García-Silva MT, Campos Y, Ribes A, Briones P, Cabello A, Santos Borbujo J, Arenas J, Garavaglia B. García-Silva MT, et al. Among authors: garavaglia b. J Pediatr. 1994 Nov;125(5 Pt 1):843-4. J Pediatr. 1994. PMID: 7965445 No abstract available.

5

Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria.

García-Silva MT, Ribes A, Campos Y, Garavaglia B, Arenas J. García-Silva MT, et al. Among authors: garavaglia b. Pediatr Neurol. 1997 Sep;17(2):165-70. doi: 10.1016/s0887-8994(97)00048-9. Pediatr Neurol. 1997. PMID: 9367300

6

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F. Iacobazzi V, et al. Among authors: garavaglia b. Hum Mutat. 2004 Oct;24(4):312-20. doi: 10.1002/humu.20085. Hum Mutat. 2004. PMID: 15365988

7

Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency.

Invernizzi F, Burlina AB, Donadio A, Giordano G, Taroni F, Garavaglia B. Invernizzi F, et al. Among authors: garavaglia b. J Inherit Metab Dis. 2001 Oct;24(5):601-2. doi: 10.1023/a:1012476029536. J Inherit Metab Dis. 2001. PMID: 11757589

8

Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment.

Parini R, Invernizzi F, Menni F, Garavaglia B, Melotti D, Rimoldi M, Salera S, Tosetto C, Taroni F. Parini R, et al. Among authors: garavaglia b. J Inherit Metab Dis. 1999 Aug;22(6):733-9. doi: 10.1023/a:1005548201355. J Inherit Metab Dis. 1999. PMID: 10472533

9

Barth syndrome presenting with acute metabolic decompensation in the neonatal period.

Donati MA, Malvagia S, Pasquini E, Morrone A, La Marca G, Garavaglia B, Toniolo D, Zammarchi E. Donati MA, et al. Among authors: garavaglia b. J Inherit Metab Dis. 2006 Oct;29(5):684. doi: 10.1007/s10545-006-0388-7. Epub 2006 Aug 12. J Inherit Metab Dis. 2006. PMID: 16906470

10

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.

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