Acquaviva C - Search Results

1

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.

2

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

3

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

4

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

5

A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation.

Schiff M, Levrat V, Acquaviva C, Vianey-Saban C, Rolland MO, Guffon N. Schiff M, et al. Among authors: acquaviva c. Mol Genet Metab. 2006 Feb;87(2):175-7. doi: 10.1016/j.ymgme.2005.10.007. Epub 2005 Dec 1. Mol Genet Metab. 2006. PMID: 16325442

6

Electron transfer flavoprotein deficiency: functional and molecular aspects.

Schiff M, Froissart R, Olsen RK, Acquaviva C, Vianey-Saban C. Schiff M, et al. Among authors: acquaviva c. Mol Genet Metab. 2006 Jun;88(2):153-8. doi: 10.1016/j.ymgme.2006.01.009. Epub 2006 Feb 28. Mol Genet Metab. 2006. PMID: 16510302

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

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.

9

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.

10

Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.

Pontoizeau C, Habarou F, Brassier A, Veauville-Merllié A, Grisel C, Arnoux JB, Vianey-Saban C, Barouki R, Chadefaux-Vekemans B, Acquaviva C, de Lonlay P, Ottolenghi C. Pontoizeau C, et al. Among authors: acquaviva c. JIMD Rep. 2016;27:39-45. doi: 10.1007/8904_2015_481. Epub 2015 Sep 27. JIMD Rep. 2016. PMID: 26409463 Free PMC article.

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