R Schiffmann
Overview
Explore the profile of R Schiffmann including associated specialties, affiliations and a list of published articles.
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Articles
90
Citations
2987
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Recent Articles
1.
Moreno-Martinez D, Aguiar P, Auray-Blais C, Beck M, Bichet D, Burlina A, et al.
Mol Genet Metab
. 2021 Mar;
132(4):234-243.
PMID: 33642210
Background: Recent years have witnessed a considerable increase in clinical trials of new investigational agents for Fabry disease (FD). Several trials investigating different agents are currently in progress; however, lack...
2.
Saint-Val L, Courtin T, Charles P, Verny C, Catala M, Schiffmann R, et al.
AJNR Am J Neuroradiol
. 2019 Apr;
40(5):788-791.
PMID: 31023660
Oculodentodigital dysplasia is an autosomal dominant disorder due to variants characterized by dysmorphic features. Neurologic symptoms have been described in some patients but without a clear neuroimaging pattern. To understand...
3.
Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, et al.
Neurology
. 2011 Sep;
77(13):1287-94.
PMID: 21917775
Objective: To characterize Alexander disease (AxD) phenotypes and determine correlations with age at onset (AAO) and genetic mutation. AxD is an astrogliopathy usually characterized on MRI by leukodystrophy and caused...
4.
Mochel F, Engelke U, Barritault J, Yang B, McNeill N, Thompson J, et al.
Neurology
. 2010 Jan;
74(4):302-5.
PMID: 20101035
Objective: To investigate body fluids of patients with undiagnosed leukodystrophies using in vitro (1)H-NMR spectroscopy (H-NMRS). Methods: We conducted a cross-sectional study using high-resolution in vitro H-NMRS on CSF and...
5.
Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, et al.
Lancet
. 2009 Dec;
374(9706):1986-96.
PMID: 19959221
Background: We analysed 5-year treatment with agalsidase alfa enzyme replacement therapy in patients with Fabry's disease who were enrolled in the Fabry Outcome Survey observational database (FOS). Methods: Baseline and...
6.
Vellodi A, Tylki-Szymanska A, Davies E, Kolodny E, Bembi B, Collin-Histed T, et al.
J Inherit Metab Dis
. 2009 Aug;
32(5):660-664.
PMID: 19655269
The original guidelines drawn up for the management of the neuronopathic forms of Gaucher disease were felt to be in need of revision; in particular, the role of high-dose enzyme...
7.
Auray-Blais C, Millington D, Young S, Clarke J, Schiffmann R
J Inherit Metab Dis
. 2009 Jan;
32(2):303-8.
PMID: 19169844
Fabry disease is a complex, multisystemic and clinically heterogeneous disease with prominent urinary excretion of globotriaosylceramide (Gb(3)), the principal substrate of the deficient enzyme, alpha-galactosidase A. Some measure of specific...
8.
Mochel F, Sedel F, Vanderver A, Engelke U, Barritault J, Yang B, et al.
Brain
. 2009 Jan;
132(Pt 3):801-9.
PMID: 19153153
In order to identify new metabolic abnormalities in patients with complex neurodegenerative disorders of unknown aetiology, we performed high resolution in vitro proton nuclear magnetic resonance spectroscopy on patient cerebrospinal...
9.
Vanderver A, Hathout Y, Maletkovic J, Gordon E, Mintz M, Timmons M, et al.
Neurology
. 2008 Jun;
70(23):2226-32.
PMID: 18519871
Objective: This is a study estimating diagnostic accuracy of CSF asialotransferrin to transferrin ratio measurement in eIF2B related disorders by using clinical evaluation and EIF2B mutation analysis as the reference...
10.
Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3
Benko W, Hruska K, Nagan N, Goker-Alpan O, Hart P, Schiffmann R, et al.
Neurology
. 2008 Mar;
70(12):976-8.
PMID: 18347322
No abstract available.