Palmieri F - Search Results

1

Identification of a missense mutation in a patient with lethal carnitine acyl-carnitine carrier deficiency.

IJx353L, Ruiter JP, Oostheim W, Niezen-Koning KE, Palmieri F, Wanders RJ. IJx353L, et al. Among authors: palmieri f. Adv Exp Med Biol. 1999;466:347-51. doi: 10.1007/0-306-46818-2_40. Adv Exp Med Biol. 1999. PMID: 10709662 No abstract available.

2

Functional analysis of mutant human carnitine acylcarnitine translocases in yeast.

IJlst L, van Roermund CW, Iacobazzi V, Oostheim W, Ruiter JP, Williams JC, Palmieri F, Wanders RJ. IJlst L, et al. Among authors: palmieri f. Biochem Biophys Res Commun. 2001 Jan 26;280(3):700-6. doi: 10.1006/bbrc.2000.4178. Biochem Biophys Res Commun. 2001. PMID: 11162577

3

Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.

Huizing M, Wendel U, Ruitenbeek W, Iacobazzi V, IJlst L, Veenhuizen P, Savelkoul P, van den Heuvel LP, Smeitink JA, Wanders RJ, Trijbels JM, Palmieri F. Huizing M, et al. Among authors: palmieri f. J Inherit Metab Dis. 1998 Jun;21(3):262-7. doi: 10.1023/a:1005324323401. J Inherit Metab Dis. 1998. PMID: 9686371 No abstract available.

4

Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.

Huizing M, Iacobazzi V, Ijlst L, Savelkoul P, Ruitenbeek W, van den Heuvel L, Indiveri C, Smeitink J, Trijbels F, Wanders R, Palmieri F. Huizing M, et al. Among authors: palmieri f. Am J Hum Genet. 1997 Dec;61(6):1239-45. doi: 10.1086/301628. Am J Hum Genet. 1997. PMID: 9399886 Free PMC article.

5

The structure and organization of the human carnitine/acylcarnitine translocase (CACT1) gene2.

Iacobazzi V, Naglieri MA, Stanley CA, Wanders RJ, Palmieri F. Iacobazzi V, et al. Among authors: palmieri f. Biochem Biophys Res Commun. 1998 Nov 27;252(3):770-4. doi: 10.1006/bbrc.1998.9738. Biochem Biophys Res Commun. 1998. PMID: 9837782

6

Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.

Iacobazzi V, Pasquali M, Singh R, Matern D, Rinaldo P, Amat di San Filippo C, Palmieri F, Longo N. Iacobazzi V, et al. Among authors: palmieri f. Am J Med Genet A. 2004 Apr 15;126A(2):150-5. doi: 10.1002/ajmg.a.20573. Am J Med Genet A. 2004. PMID: 15057979

7

Identification of the mitochondrial carnitine carrier in Saccharomyces cerevisiae.

Palmieri L, Lasorsa FM, Iacobazzi V, Runswick MJ, Palmieri F, Walker JE. Palmieri L, et al. Among authors: palmieri f. FEBS Lett. 1999 Dec 3;462(3):472-6. doi: 10.1016/s0014-5793(99)01555-0. FEBS Lett. 1999. PMID: 10622748 Free article.

8

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

Pop A, Williams M, Struys EA, Monné M, Jansen EEW, De Grassi A, Kanhai WA, Scarcia P, Ojeda MRF, Porcelli V, van Dooren SJM, Lennertz P, Nota B, Abdenur JE, Coman D, Das AM, El-Gharbawy A, Nuoffer JM, Polic B, Santer R, Weinhold N, Zuccarelli B, Palmieri F, Palmieri L, Salomons GS. Pop A, et al. Among authors: palmieri l, palmieri f. J Inherit Metab Dis. 2018 Mar;41(2):169-180. doi: 10.1007/s10545-017-0106-7. Epub 2017 Dec 13. J Inherit Metab Dis. 2018. PMID: 29238895 Free PMC article.

9

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: palmieri f. Hum Mutat. 2004 Oct;24(4):312-20. doi: 10.1002/humu.20085. Hum Mutat. 2004. PMID: 15365988

10

Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders.

Huizing M, Ruitenbeek W, van den Heuvel LP, Dolce V, Iacobazzi V, Smeitink JA, Palmieri F, Trijbels JM. Huizing M, et al. Among authors: palmieri f. J Bioenerg Biomembr. 1998 Jun;30(3):277-84. doi: 10.1023/a:1020501021222. J Bioenerg Biomembr. 1998. PMID: 9733094

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