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Items: 25

1.

Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency.

Dernoncourt A, Bouchereau J, Acquaviva-Bourdain C, Wicker C, De Lonlay P, Gourguechon C, Sevestre H, Merle PE, Maizel J, Brault C.

Case Rep Crit Care. 2019 Dec 21;2019:1598213. doi: 10.1155/2019/1598213. eCollection 2019.

2.

Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.

Scheidecker S, Bär S, Stoetzel C, Geoffroy V, Lannes B, Rinaldi B, Fischer F, Becker HD, Pelletier V, Pagan C, Acquaviva-Bourdain C, Kremer S, Mirande M, Tranchant C, Muller J, Friant S, Dollfus H.

Hum Mutat. 2019 Oct;40(10):1826-1840. doi: 10.1002/humu.23799. Epub 2019 Jun 18.

3.

Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.

Barp A, Bellance R, Malfatti E, Rigal O, Acquaviva-Bourdain C, Laforet P.

J Clin Rheumatol. 2019 Feb 19. doi: 10.1097/RHU.0000000000001000. [Epub ahead of print] No abstract available.

PMID:
30801335
4.

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.

Krahn M, Biancalana V, Cerino M, Perrin A, Michel-Calemard L, Nectoux J, Leturcq F, Bouchet-Séraphin C, Acquaviva-Bourdain C, Campana-Salort E, Molon A, Urtizberea JA, Audic F, Chabrol B, Pouget J, Froissart R, Melki J, Rendu J, Petit F, Métay C, Seta N, Sternberg D, Fauré J, Cossée M.

Eur J Hum Genet. 2019 Mar;27(3):349-352. doi: 10.1038/s41431-018-0305-1. Epub 2018 Dec 14.

PMID:
30552423
5.

Encephalopathy associated with a reversible splenial lesion in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Touat M, Michaud M, Alamowitch S, Maisonobe T, Acquaviva-Bourdain C, Laforêt P.

Rev Neurol (Paris). 2018 Dec;174(10):747-750. doi: 10.1016/j.neurol.2017.12.004. Epub 2018 Jul 30. No abstract available.

PMID:
30072122
6.

Monitoring of asparagine depletion and anti-L-asparaginase antibodies in adult acute lymphoblastic leukemia treated in the pediatric-inspired GRAALL-2005 trial.

Paillassa J, Leguay T, Thomas X, Huguet F, Audrain M, Lheritier V, Vianey-Saban C, Acquaviva-Bourdain C, Pagan C, Dombret H, Ifrah N, Boissel N, Hunault-Berger M.

Blood Cancer J. 2018 May 22;8(5):45. doi: 10.1038/s41408-018-0084-5. No abstract available.

7.

Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.

Oerum S, Roovers M, Leichsenring M, Acquaviva-Bourdain C, Beermann F, Gemperle-Britschgi C, Fouilhoux A, Korwitz-Reichelt A, Bailey HJ, Droogmans L, Oppermann U, Sass JO, Yue WW.

Biochim Biophys Acta Mol Basis Dis. 2017 Dec;1863(12):3294-3302. doi: 10.1016/j.bbadis.2017.09.002. Epub 2017 Sep 7.

8.

Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.

Roland D, Jissendi-Tchofo P, Briand G, Vamecq J, Fontaine M, Ultré V, Acquaviva-Bourdain C, Mention K, Dobbelaere D.

Mol Genet Metab. 2017 Jun;121(2):111-118. doi: 10.1016/j.ymgme.2017.03.006. Epub 2017 Mar 30.

PMID:
28396157
9.

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.

Paquay S, Bourillon A, Pichard S, Benoist JF, de Lonlay P, Dobbelaere D, Fouilhoux A, Guffon N, Rouvet I, Labarthe F, Mention K, Touati G, Valayannopoulos V, Ogier de Baulny H, Elmaleh-Bergès M, Acquaviva-Bourdain C, Vianey-Saban C, Schiff M.

J Inherit Metab Dis. 2017 May;40(3):415-422. doi: 10.1007/s10545-017-0021-y. Epub 2017 Mar 2.

PMID:
28255778
10.

The wide POLG-related spectrum: An integrated view.

Béreau M, Anheim M, Echaniz-Laguna A, Magot A, Verny C, Goideau-Sevrain M, Barth M, Amati-Bonneau P, Allouche S, Ayrignac X, Bédat-Millet AL, Guyant-Maréchal L, Kuntzer T, Ochsner F, Petiot P, Vial C, Omer S, Sole G, Taieb G, Carvalho N, Tio G, Kremer S, Acquaviva-Bourdain C, de Camaret BM, Tranchant C.

J Neurol Sci. 2016 Sep 15;368:70-6. doi: 10.1016/j.jns.2016.06.062. Epub 2016 Jun 29. No abstract available.

PMID:
27538604
11.

Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.

Béhin A, Acquaviva-Bourdain C, Souvannanorath S, Streichenberger N, Attarian S, Bassez G, Brivet M, Fouilhoux A, Labarre-Villa A, Laquerrière A, Pérard L, Kaminsky P, Pouget J, Rigal O, Vanhulle C, Eymard B, Vianey-Saban C, Laforêt P.

Rev Neurol (Paris). 2016 Mar;172(3):231-41. doi: 10.1016/j.neurol.2015.11.008. Epub 2016 Mar 30.

PMID:
27038534
12.

Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency.

Durel CA, Aouba A, Bienvenu B, Deshayes S, Coppéré B, Gombert B, Acquaviva-Bourdain C, Hachulla E, Lecomte F, Touitou I, Ninet J, Philit JB, Messer L, Brouillard M, Girard-Madoux MH, Moutschen M, Raison-Peyron N, Hutin P, Duffau P, Trolliet P, Hatron PY, Heudier P, Cevallos R, Lequerré T, Brousse V, Lesire V, Audia S, Maucort-Boulch D, Cuisset L, Hot A.

Medicine (Baltimore). 2016 Mar;95(11):e3027. doi: 10.1097/MD.0000000000003027.

13.

Angelman syndrome and isovaleric acidemia: What is the link?

Lambrecht A, Pichard S, Maurey H, Segarra NG, Drunat S, Acquaviva-Bourdain C, Passemard S, Benoist JF, Fauret-Amsellem AL, Schiff M.

Mol Genet Metab Rep. 2015 Mar 30;3:36-8. doi: 10.1016/j.ymgmr.2015.03.004. eCollection 2015 Jun.

14.

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.

Schiff M, Veauville-Merllié A, Su CH, Tzagoloff A, Rak M, Ogier de Baulny H, Boutron A, Smedts-Walters H, Romero NB, Rigal O, Rustin P, Vianey-Saban C, Acquaviva-Bourdain C.

N Engl J Med. 2016 Feb 25;374(8):795-7. doi: 10.1056/NEJMc1513610. No abstract available.

15.

Renal function can be impaired in children with primary hyperoxaluria type 3.

Allard L, Cochat P, Leclerc AL, Cachat F, Fichtner C, De Souza VC, Garcia CD, Camoin-Schweitzer MC, Macher MA, Acquaviva-Bourdain C, Bacchetta J.

Pediatr Nephrol. 2015 Oct;30(10):1807-13. doi: 10.1007/s00467-015-3090-x. Epub 2015 May 14.

PMID:
25972204
16.

Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.

Mandrile G, van Woerden CS, Berchialla P, Beck BB, Acquaviva Bourdain C, Hulton SA, Rumsby G; OxalEurope Consortium.

Kidney Int. 2014 Dec;86(6):1197-204. doi: 10.1038/ki.2014.222. Epub 2014 Jul 2.

17.

Membrane-bound CYB5R3 is a common effector of nutritional and oxidative stress response through FOXO3a and Nrf2.

Siendones E, SantaCruz-Calvo S, Martín-Montalvo A, Cascajo MV, Ariza J, López-Lluch G, Villalba JM, Acquaviva-Bourdain C, Roze E, Bernier M, de Cabo R, Navas P.

Antioxid Redox Signal. 2014 Oct 20;21(12):1708-25. doi: 10.1089/ars.2013.5479. Epub 2014 Feb 28.

18.

Subacute myopathy in a mature patient due to multiple acyl-coenzyme A dehydrogenase deficiency.

Kaminsky P, Acquaviva-Bourdain C, Jonas J, Pruna L, Chaloub GE, Rigal O, Grignon Y, Vianey-Saban C.

Muscle Nerve. 2011 Mar;43(3):444-6. doi: 10.1002/mus.21881.

PMID:
21321959
19.

[Multiple acyl-CoA dehydrogenase deficiency (MADD): a curable cause of genetic muscular lipidosis].

Maillart E, Acquaviva-Bourdain C, Rigal O, Brivet M, Jardel C, Lombès A, Eymard B, Vianey-Saban C, Laforêt P.

Rev Neurol (Paris). 2010 Mar;166(3):289-94. doi: 10.1016/j.neurol.2009.05.009. Epub 2009 Jul 9. French.

PMID:
19592060
20.

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.

Laforêt P, Acquaviva-Bourdain C, Rigal O, Brivet M, Penisson-Besnier I, Chabrol B, Chaigne D, Boespflug-Tanguy O, Laroche C, Bedat-Millet AL, Behin A, Delevaux I, Lombès A, Andresen BS, Eymard B, Vianey-Saban C.

Neuromuscul Disord. 2009 May;19(5):324-9. doi: 10.1016/j.nmd.2009.02.007. Epub 2009 Mar 26.

PMID:
19327992
21.

Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy.

Basheer SN, Waters PJ, Lam CW, Acquaviva-Bourdain C, Hendson G, Poskitt K, Hukin J.

Neuropediatrics. 2007 Feb;38(1):38-41.

PMID:
17607604
22.

Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis.

Westermann CM, de Sain-van der Velden MG, van der Kolk JH, Berger R, Wijnberg ID, Koeman JP, Wanders RJ, Lenstra JA, Testerink N, Vaandrager AB, Vianey-Saban C, Acquaviva-Bourdain C, Dorland L.

Mol Genet Metab. 2007 Aug;91(4):362-9. Epub 2007 May 30.

PMID:
17540595
23.

High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.

Lion-François L, Cheillan D, Pitelet G, Acquaviva-Bourdain C, Bussy G, Cotton F, Guibaud L, Gérard D, Rivier C, Vianey-Saban C, Jakobs C, Salomons GS, des Portes V.

Neurology. 2006 Nov 14;67(9):1713-4. No abstract available.

PMID:
17101918
24.

A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.

Hahnewald R, Leimkühler S, Vilaseca A, Acquaviva-Bourdain C, Lenz U, Reiss J.

Mol Genet Metab. 2006 Nov;89(3):210-3. Epub 2006 Jun 5.

PMID:
16737835
25.

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