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Items: 1 to 20 of 98


Clinical Analysis of Algerian Patients with Pompe Disease.

Sifi Y, Medjroubi M, Froissart R, Taghane N, Sifi K, Benhabiles A, Lemai S, Semra S, Benmekhebi H, Bouderda Z, Abadi N, Hamri A.

J Neurodegener Dis. 2017;2017:9427269. doi: 10.1155/2017/9427269. Epub 2017 Feb 6.


A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.

Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG.

Int J Mol Sci. 2017 Feb 17;18(2). pii: E441. doi: 10.3390/ijms18020441. Review.


Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.

Chéraud C, Froissart R, Lannes B, Echaniz-Laguna A.

Muscle Nerve. 2017 Jan 24. doi: 10.1002/mus.25588. [Epub ahead of print]


Probiotics for vaginal health in South Africa: what is on retailers' shelves?

Happel AU, Jaumdally SZ, Pidwell T, Cornelius T, Jaspan HB, Froissart R, Barnabas SL, Passmore JS.

BMC Womens Health. 2017 Jan 19;17(1):7. doi: 10.1186/s12905-017-0362-6.


[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].

Lidove O, Belmatoug N, Froissart R, Lavigne C, Durieu I, Mazodier K, Serratrice C, Douillard C, Goizet C, Cathebras P, Besson G, Amoura Z, Tazi A, Gatfossé M, Rivière S, Sené T, Vanier MT, Ziza JM.

Rev Med Interne. 2016 Nov 22. pii: S0248-8663(16)30968-7. doi: 10.1016/j.revmed.2016.10.387. [Epub ahead of print] French.


30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case.

Do Cao J, Wiedemann A, Quinaux T, Battaglia-Hsu SF, Mainard L, Froissart R, Bonnemains C, Ragot S, Leheup B, Journeau P, Feillet F.

Mol Genet Metab Rep. 2016 Oct 10;9:42-45. eCollection 2016 Oct 10.


Discovery of parvovirus-related sequences in an unexpected broad range of animals.

François S, Filloux D, Roumagnac P, Bigot D, Gayral P, Martin DP, Froissart R, Ogliastro M.

Sci Rep. 2016 Sep 7;6:30880. doi: 10.1038/srep30880.


Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

Vianey-Saban C, Acquaviva C, Cheillan D, Collardeau-Frachon S, Guibaud L, Pagan C, Pettazzoni M, Piraud M, Lamazière A, Froissart R.

J Inherit Metab Dis. 2016 Sep;39(5):611-24. doi: 10.1007/s10545-016-9947-8. Epub 2016 Jul 8.


Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.

Chkioua L, Khedhiri S, Hafsi H, Grissa O, Ben Turkia H, Miled A, Laradi S, Froissart R, Alif N.

Diagn Pathol. 2016 Jun 17;11(1):51. doi: 10.1186/s13000-016-0498-y.


Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene.

Chkioua L, Khedhiri S, Grissa O, Aloui C, Turkia HB, Ferchichi S, Miled A, Froissart R, Acquaviva C, Laradi S.

Meta Gene. 2015 Jul 25;5:144-9. doi: 10.1016/j.mgene.2015.07.003. eCollection 2015 Jul 25.


Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.

Sabourdy F, Mourey L, Le Trionnaire E, Bednarek N, Caillaud C, Chaix Y, Delrue MA, Dusser A, Froissart R, Garnotel R, Guffon N, Megarbane A, Ogier de Baulny H, Pédespan JM, Pichard S, Valayannopoulos V, Verloes A, Levade T.

Orphanet J Rare Dis. 2015 Mar 15;10:31. doi: 10.1186/s13023-015-0244-7.


Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation.

Dainese L, Adam N, Boudjemaa S, Hadid K, Rosenblatt J, Jouannic JM, Heron D, Froissart R, Coulomb A.

Pediatr Dev Pathol. 2016 Nov/Dec;19(6):512-515. doi: 10.2350/14-09-1557-CR.1. Epub 2014 Dec 9.


A Novel Itera-Like Densovirus Isolated by Viral Metagenomics from the Sea Barley Hordeum marinum.

François S, Bernardo P, Filloux D, Roumagnac P, Yaverkovski N, Froissart R, Ogliastro M.

Genome Announc. 2014 Dec 4;2(6). pii: e01196-14. doi: 10.1128/genomeA.01196-14.


[Laboratory diagnosis and follow up of mucopolysaccharidoses].

Froissart R, Bekri S.

Arch Pediatr. 2014 Jun;21 Suppl 1:S27-31. doi: 10.1016/S0929-693X(14)72256-0. French.


Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model.

Vigan M, Stirnemann J, Caillaud C, Froissart R, Boutten A, Fantin B, Belmatoug N, Mentré F.

Orphanet J Rare Dis. 2014 Jun 30;9:95. doi: 10.1186/1750-1172-9-95.


Cirrhosis and liver failure: expanding phenotype of Acid sphingomyelinase-deficient niemann-pick disease in adulthood.

Lidove O, Sedel F, Charlotte F, Froissart R, Vanier MT.

JIMD Rep. 2015;15:117-21. doi: 10.1007/8904_2014_306. Epub 2014 Apr 10.


Reduction of leaf area and symptom severity as proxies of disease-induced plant mortality: the example of the Cauliflower mosaic virus infecting two Brassicaceae hosts.

Doumayrou J, Leblaye S, Froissart R, Michalakis Y.

Virus Res. 2013 Sep;176(1-2):91-100. doi: 10.1016/j.virusres.2013.05.008. Epub 2013 Jun 3.


Evolution of virulence in emerging epidemics.

Berngruber TW, Froissart R, Choisy M, Gandon S.

PLoS Pathog. 2013 Mar;9(3):e1003209. doi: 10.1371/journal.ppat.1003209. Epub 2013 Mar 14.


An experimental test of the transmission-virulence trade-off hypothesis in a plant virus.

Doumayrou J, Avellan A, Froissart R, Michalakis Y.

Evolution. 2013 Feb;67(2):477-86. doi: 10.1111/j.1558-5646.2012.01780.x. Epub 2012 Sep 17.


Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease.

Dainese L, Monin ML, Demeret S, Brochier G, Froissart R, Spraul A, Schiffmann R, Seilhean D, Mochel F.

Gene. 2013 Feb 25;515(2):376-9. doi: 10.1016/j.gene.2012.12.065. Epub 2012 Dec 21.


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