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Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.60-60, Article 60

2021

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

Scientific reports, 2016-09, Vol.6 (1), p.30880-30880, Article 30880

2016

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The virulence-transmission trade-off in vector-borne plant viruses: a review of (non-)existing studies

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2010-06, Vol.365 (1548), p.1907

2010

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Increase in taxonomic assignment efficiency of viral reads in metagenomic studies

Virus research, 2018-01, Vol.244, p.230-234

2018

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Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease

Neurology, 2008-05, Vol.70 (22), p.2063

2008

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Mutations in ASAH1 may cause spinal muscular atrophy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S225-S225

2015

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Laboratory diagnosis and follow up of mucopolysaccharidoses

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2014-06, Vol.21 Suppl 1, p.S27-S31

2014

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Peripheral nerve involvement in Fabry's disease: Which investigations? A case series and review of the literature

Revue neurologique, 2017-12, Vol.173 (10), p.650-657

2017

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

Molecular genetics and metabolism reports, 2016-12, Vol.9, p.42-45

2016

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

La revue de medecine interne, 2017-05, Vol.38 (5), p.291-299

2017

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Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources

Bone marrow transplantation (Basingstoke), 2003-06, Vol.31 (12), p.1105-1117

2003

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Structure of the Mature P3-virus Particle Complex of Cauliflower Mosaic Virus Revealed by Cryo-electron Microscopy

Journal of molecular biology, 2005-02, Vol.346 (1), p.267-277

2005

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Current and future biochemical markers for Gaucher disease

La revue de medecine interne, 2006-03, Vol.27, p.S22-S25

Froissart, R.

2006

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Four successful pregnancies in a patient with mucopolysaccharidosis type I treated by allogeneic bone marrow transplantation

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.111-113

2009

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Intracellular distribution of viral gene products regulates a complex mechanism of cauliflower mosaic virus acquisition by its aphid vector

Proceedings of the National Academy of Sciences - PNAS, 2002-02, Vol.99 (4), p.2422-2427

2002

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Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero

Journal of medical genetics, 2005-11, Vol.42 (11), p.829-836

2005

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Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease

La revue de medecine interne, 2010-12, Vol.31 Suppl 2, p.S270-S274

2010

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Surrisque de cancer au cours du déficit en sphingomyélinase acide (maladie de Niemann-Pick B)

La revue de medecine interne, 2022-06, Vol.43, p.A74-A74

2022

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Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy

Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.135-142

2006

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Prenatal symptoms and diagnosis of inherited metabolic diseases

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2012-09, Vol.19 (9), p.959

2012

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Contribution of genotyping in Fabry's disease

La revue de medecine interne, 2010-12, Vol.31 Suppl 2, p.S275-S278

2010

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Clinical Analysis of Algerian Patients with Pompe Disease

Journal of neurodegenerative diseases, 2017-01, Vol.2017, p.1-7

2017

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Aseptic meningitis and ischaemic stroke in Fabry disease

International journal of clinical practice (Esher), 2009-11, Vol.63 (11), p.1663-1667

2009

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Apports du génotypage dans la maladie de Fabry

La Revue de médecine interne (Paris), 2010-12, Vol.31, p.S275-S278

2010

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Intérêt du dosage du globotriaosylcéramide urinaire pour le diagnostic et le suivi du traitement de la maladie de Fabry

La Revue de médecine interne (Paris), 2010-12, Vol.31, p.S270-S274

2010

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Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)

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

The virulence-transmission trade-off in vector-borne plant viruses: a review of (non-)existing studies

Increase in taxonomic assignment efficiency of viral reads in metagenomic studies

Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease

Mutations in ASAH1 may cause spinal muscular atrophy

Laboratory diagnosis and follow up of mucopolysaccharidoses

Peripheral nerve involvement in Fabry's disease: Which investigations? A case series and review of the literature

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

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

Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources

Structure of the Mature P3-virus Particle Complex of Cauliflower Mosaic Virus Revealed by Cryo-electron Microscopy

Current and future biochemical markers for Gaucher disease

Four successful pregnancies in a patient with mucopolysaccharidosis type I treated by allogeneic bone marrow transplantation

Intracellular distribution of viral gene products regulates a complex mechanism of cauliflower mosaic virus acquisition by its aphid vector

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero

Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease

Surrisque de cancer au cours du déficit en sphingomyélinase acide (maladie de Niemann-Pick B)

Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy

Prenatal symptoms and diagnosis of inherited metabolic diseases

Contribution of genotyping in Fabry's disease

Clinical Analysis of Algerian Patients with Pompe Disease

Aseptic meningitis and ischaemic stroke in Fabry disease

Apports du génotypage dans la maladie de Fabry

Intérêt du dosage du globotriaosylcéramide urinaire pour le diagnostic et le suivi du traitement de la maladie de Fabry

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