Acquaviva C - Search Results

1

Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis.

Androdias G, Vukusic S, Gignoux L, Boespflug-Tanguy O, Acquaviva C, Zabot MT, Couvert P, Carrie A, Confavreux C, Labauge P. Androdias G, et al. Among authors: acquaviva c. J Neurol. 2012 Feb;259(2):364-6. doi: 10.1007/s00415-011-6167-x. Epub 2011 Jul 19. J Neurol. 2012. PMID: 21769531 No abstract available.

2

Clinical reasoning: A young woman with rapid mental deterioration and leukoencephalopathy: a treatable cause.

Biotti D, Esteban-Mader M, Diot E, Acquaviva C, Guffon N, Tilikete C, Benoist JF, Labauge P, Vighetto A. Biotti D, et al. Among authors: acquaviva c. Neurology. 2014 Nov 18;83(21):e182-6. doi: 10.1212/WNL.0000000000001006. Neurology. 2014. PMID: 25404648 No abstract available.

3

Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work.

Gebus O, Montaut S, Monga B, Wirth T, Cheraud C, Alves Do Rego C, Zinchenko I, Carré G, Hamdaoui M, Hautecloque G, Nguyen-Them L, Lannes B, Chanson JB, Lagha-Boukbiza O, Fleury MC, Devys D, Nicolas G, Rudolf G, Bereau M, Mallaret M, Renaud M, Acquaviva C, Koenig M, Koob M, Kremer S, Namer IJ, Cazeneuve C, Echaniz-Laguna A, Tranchant C, Anheim M. Gebus O, et al. Among authors: acquaviva c. J Neurol. 2017 Jun;264(6):1118-1126. doi: 10.1007/s00415-017-8500-5. Epub 2017 May 6. J Neurol. 2017. PMID: 28478596

4

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.

Nizon M, Ottolenghi C, Valayannopoulos V, Arnoux JB, Barbier V, Habarou F, Desguerre I, Boddaert N, Bonnefont JP, Acquaviva C, Benoist JF, Rabier D, Touati G, de Lonlay P. Nizon M, et al. Among authors: acquaviva c. Orphanet J Rare Dis. 2013 Sep 23;8:148. doi: 10.1186/1750-1172-8-148. Orphanet J Rare Dis. 2013. PMID: 24059531 Free PMC article.

5

Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.

Abily-Donval L, Torre S, Samson A, Sudrié-Arnaud B, Acquaviva C, Guerrot AM, Benoist JF, Marret S, Bekri S, Tebani A. Abily-Donval L, et al. Among authors: acquaviva c. Int J Mol Sci. 2017 Nov 1;18(11):2294. doi: 10.3390/ijms18112294. Int J Mol Sci. 2017. PMID: 29104221 Free PMC article.

6

Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.

Marelli C, Fouilhoux A, Benoist JF, De Lonlay P, Guffon-Fouilhoux N, Brassier A, Cano A, Chabrol B, Pennisi A, Schiff M, Acquaviva C, Murphy E, Servais A, Lachmann R. Marelli C, et al. Among authors: acquaviva c. J Inherit Metab Dis. 2022 Sep;45(5):937-951. doi: 10.1002/jimd.12525. Epub 2022 Jun 23. J Inherit Metab Dis. 2022. PMID: 35618652 Free PMC article.

7

Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

Levrat V, Forest I, Fouilhoux A, Acquaviva C, Vianey-Saban C, Guffon N. Levrat V, et al. Among authors: acquaviva c. Orphanet J Rare Dis. 2008 Jan 30;3:2. doi: 10.1186/1750-1172-3-2. Orphanet J Rare Dis. 2008. PMID: 18234091 Free PMC article.

8

Molecular and structural analysis of two novel mutations in a patient with mut(-) methylmalonyl-CoA deficiency.

Benoist JF, Acquaviva C, Callebaut I, Guffon N, Ogier de Baulny H, Mornon JP, Porquet D, Elion J. Benoist JF, et al. Among authors: acquaviva c. Mol Genet Metab. 2001 Feb;72(2):181-4. doi: 10.1006/mgme.2000.3122. Mol Genet Metab. 2001. PMID: 11161845

9

N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.

Acquaviva C, Benoist JF, Callebaut I, Guffon N, Ogier de Baulny H, Touati G, Aydin A, Porquet D, Elion J. Acquaviva C, et al. Eur J Hum Genet. 2001 Aug;9(8):577-82. doi: 10.1038/sj.ejhg.5200675. Eur J Hum Genet. 2001. PMID: 11528502

10

Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

Acquaviva C, Benoist JF, Pereira S, Callebaut I, Koskas T, Porquet D, Elion J. Acquaviva C, et al. Hum Mutat. 2005 Feb;25(2):167-76. doi: 10.1002/humu.20128. Hum Mutat. 2005. PMID: 15643616

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