Dionisi-Vici C - Search Results

1

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

Torraco A, Bianchi M, Verrigni D, Gelmetti V, Riley L, Niceta M, Martinelli D, Montanari A, Guo Y, Rizza T, Diodato D, Di Nottia M, Lucarelli B, Sorrentino F, Piemonte F, Francisci S, Tartaglia M, Valente EM, Dionisi-Vici C, Christodoulou J, Bertini E, Carrozzo R. Torraco A, et al. Clin Genet. 2017 Mar;91(3):441-447. doi: 10.1111/cge.12790. Epub 2016 May 25. Clin Genet. 2017. PMID: 27102574

2

Fatal infantile liver failure associated with mitochondrial DNA depletion.

Mazziotta MR, Ricci E, Bertini E, Dionisi Vici C, Servidei S, Burlina AB, Sabetta G, Bartuli A, Manfredi G, Silvestri G, et al. Mazziotta MR, et al. J Pediatr. 1992 Dec;121(6):896-901. doi: 10.1016/s0022-3476(05)80335-x. J Pediatr. 1992. PMID: 1447652 Free article.

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. Eur J Pediatr. 1992 Feb;151(2):121-6. doi: 10.1007/BF01958956. Eur J Pediatr. 1992. PMID: 1537353

4

Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infections.

Bertini E, Cusmai R, de Saint Basile G, Le Deist F, Di Capua M, Gaggero DR, Dionisi-Vici C, Santillo C, Caniglia M. Bertini E, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):443-51. doi: 10.1002/ajmg.1320430167. Am J Med Genet. 1992. PMID: 1605224

5

New clinical phenotype of branched-chain acyl-CoA oxidation defect.

Burlina A, Zacchello F, Dionisi-Vici C, Bertini E, Sabetta G, Bennet MJ, Hale DE, Schmidt-Sommerfeld E, Rinaldo P. Burlina A, et al. Lancet. 1991 Dec 14;338(8781):1522-3. doi: 10.1016/0140-6736(91)92338-3. Lancet. 1991. PMID: 1683940 No abstract available.

6

Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

Dionisi Vici C, Burlina AB, Bertini E, Bachmann C, Mazziotta MR, Zacchello F, Sabetta G, Hale DE. Dionisi Vici C, et al. J Pediatr. 1991 May;118(5):744-6. doi: 10.1016/s0022-3476(05)80039-3. J Pediatr. 1991. PMID: 2019931 No abstract available.

7

Involvement of respiratory muscles in cytoplasmic body myopathy--a pathology study.

Bertini E, Ricci E, Boldrini R, Servidei S, Fusilli S, Dionisi-Vici C, Bosman C, Bonilla E. Bertini E, et al. Brain Dev. 1990;12(6):798-806. doi: 10.1016/s0387-7604(12)80010-6. Brain Dev. 1990. PMID: 2092592

8

Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.

Dionisi Vici C, Sabetta G, Gambarara M, Vigevano F, Bertini E, Boldrini R, Parisi SG, Quinti I, Aiuti F, Fiorilli M. Dionisi Vici C, et al. Am J Med Genet. 1988 Jan;29(1):1-8. doi: 10.1002/ajmg.1320290102. Am J Med Genet. 1988. PMID: 3344762

9

Carnitine in lactic acidosis.

Dionisi Vici C, Bertini E, Bartuli A, Sabetta G. Dionisi Vici C, et al. J Pediatr. 1988 Apr;112(4):678. doi: 10.1016/s0022-3476(88)80202-6. J Pediatr. 1988. PMID: 3351698 No abstract available.

10

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. J Pediatr. 1996 Jul;129(1):159-62. doi: 10.1016/s0022-3476(96)70206-8. J Pediatr. 1996. PMID: 8757579

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

342 results

Search Page

Filters