Search Results - "FROISSART, R"

Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT) by Guffon, N, Pettazzoni, M, Pangaud, N, Garin, C, Lina-Granade, G, Plault, C, Mottolese, C, Froissart, R, Fouilhoux, A

“…Mucopolysaccharidosis type I-Hurler syndrome (MPSI-H) is a lysosomal storage disease characterized by severe physical symptoms and cognitive decline. Early…”
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The virulence–transmission trade-off in vector-borne plant viruses: a review of (non-)existing studies by Froissart, R., Doumayrou, J., Vuillaume, F., Alizon, S., Michalakis, Y.

“…The adaptive hypothesis invoked to explain why parasites harm their hosts is known as the trade-off hypothesis, which states that increased parasite…”
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Discovery of parvovirus-related sequences in an unexpected broad range of animals by François, S., Filloux, D., Roumagnac, P., Bigot, D., Gayral, P., Martin, D. P., Froissart, R., Ogliastro, M.

“…Our knowledge of the genetic diversity and host ranges of viruses is fragmentary. This is particularly true for the Parvoviridae family. Genetic diversity…”
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McArdle's disease revealed by acute low back pain by Langbour, C, Nicolas, S, Bigot, A, Chu Miow Lin, D, Baydoun, S, Blasco, H, Froissart, R, Ferreira-Maldent, N, Audemard-Verger, A, Maillot, F

“…McArdle disease, or glycogen storage disease type V (GSD 5), is a rare metabolic myopathy linked to an autosomal recessive myophosphorylase deficiency. We…”
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Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease by LAFORET, P, PETIOT, P, HADRANE, L, ANNANE, D, EYMARD, B, NICOLINO, M, ORLIKOWSKI, D, CAILLAUD, C, PELLEGRINI, N, FROISSART, R, PETITJEAN, T, MAIRE, I, CHABRIAT, H

“…Strokes related to intracranial aneurysm or arteriopathy have been reported in a few patients with late-onset Pompe disease. These reports suggested that…”
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Increase in taxonomic assignment efficiency of viral reads in metagenomic studies by François, S., Filloux, D., Frayssinet, M., Roumagnac, P., Martin, D.P., Ogliastro, M., Froissart, R.

“…Metagenomics studies have revolutionized the field of biology by revealing the presence of many previously unisolated and uncultured micro-organisms. However,…”
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Mutations in ASAH1 may cause spinal muscular atrophy by Behin, A, Nelson, I, Bonne, G, Romero, N, Froissart, R

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Peripheral nerve involvement in Fabry's disease: Which investigations? A case series and review of the literature by Franques, J., Sahuc, P., Dussol, B., Penaranda, G., Swiader, L., Froissart, R., Attarian, S., Stavris, C., Chiche, L., Pouget, J.

“…Peripheral nerve system (PNS) involvement is common in Fabry's disease (FD), predominantly affecting the small nerve fibers that are difficult to investigate…”
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Laboratory diagnosis and follow up of mucopolysaccharidoses by Froissart, R, Bekri, S

“…Mucopolysaccharidoses (MPS) often raise diagnostic challenges, particularly in patients with progressive disease and relatively non-specific signs and…”
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30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case by Do Cao, J., Wiedemann, A., Quinaux, T., Battaglia-Hsu, S.F., Mainard, L., Froissart, R., Bonnemains, C., Ragot, S., Leheup, B., Journeau, P., Feillet, F.

“…Patients under 5years were not evaluated in the phase-3 study for enzyme replacement therapy (ERT) in MPS IV A. Here we describe the evolution of a severe…”
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Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases by 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, M T, Ziza, J-M

“…Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease with a clinical spectrum ranging from a neurovisceral infantile form (Niemann-Pick…”
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Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources by SOUILLET, G, GUFFON, N, GALAMBRUN, C, BERTRAND, Y, FROISSART, R, DORCHE, C, GEBUHRER, L, GARIN, C, BERARD, J, GUIBAUD, P, MAIRE, I, PUJOL, M, TAYLOR, P, SEVIN, F, BLEYZAC, N, MULIER, C, DURIN, A, KEBAILI, K

“…Over the last 15 years, we have performed a total of 30 haematopoietic stem cell transplants on 27 children suffering from Hurler's syndrome. These children…”
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Current and future biochemical markers for Gaucher disease by Froissart, R.

“…Les marqueurs biochimiques sécrétés par les cellules de Gaucher sont nombreux, mais aucun de ceux identifiés jusqu'à présent n'offre toutes les qualités…”
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Four successful pregnancies in a patient with mucopolysaccharidosis type I treated by allogeneic bone marrow transplantation by Remérand, G., Merlin, E., Froissart, R., Brugnon, F., Kanold, J., Janny, L., Deméocq, F.

“…Summary To date, little is known about the fertility of women suffering from mucopolysaccharidosis type I (MPS I). We report on a female patient with MPS I…”
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Structure of the Mature P3-virus Particle Complex of Cauliflower Mosaic Virus Revealed by Cryo-electron Microscopy by Plisson, Célia, Uzest, Marilyne, Drucker, Martin, Froissart, Rémy, Dumas, Christian, Conway, James, Thomas, Daniel, Blanc, Stéphane, Bron, Patrick

“…The cauliflower mosaic virus (CaMV) has an icosahedral capsid composed of the viral protein P4. The viral product P3 is a multifunctional protein closely…”
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Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero by Froissart, R, Cheillan, D, Bouvier, R, Tourret, S, Bonnet, V, Piraud, M, Maire, I

“…Background: Sialic acid storage diseases (SASDs) are caused by the defective transport of free sialic acid outside the lysosome. Apart from the Salla…”
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A Novel Itera-Like Densovirus Isolated by Viral Metagenomics from the Sea Barley Hordeum marinum by François, S, Bernardo, P, Filloux, D, Roumagnac, P, Yaverkovski, N, Froissart, R, Ogliastro, M

“…Densoviruses (DVs) infect arthropods and belong to the Parvoviridae family. Here, we report the complete coding sequence of a novel DV isolated from the plant…”
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Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease by Piraud, M, Maire, I, Froissart, R

“…Globotriaosylceramide (Gb(3)) has been measured in urine of 35 male hemizygotes and 66 female heterozygotes for Fabry disease (FD). In males, Gb(3) measurement…”
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Prenatal symptoms and diagnosis of inherited metabolic diseases by Brassier, A, Ottolenghi, C, Boddaert, N, Sonigo, P, Attié-Bitach, T, Millischer-Bellaiche, A-E, Baujat, G, Cormier-Daire, V, Valayannopoulos, V, Seta, N, Piraud, M, Chadefaux-Vekemans, B, Vianey-Saban, C, Froissart, R, de Lonlay, P

“…Inherited metabolic diseases are mostly due to enzyme deficiency in one of numerous metabolic pathways, leading to absence of a compound downstream from and…”
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Contribution of genotyping in Fabry's disease by Froissart, R, Piraud, M, Maire, I

“…Fabry's disease is an X-linked disorder due to mutations in the GLA gene encoding the lysosomal enzyme alpha-galactosidase A. Clinically, most patients present…”
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