Raphael Schiffmann
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Explore the profile of Raphael Schiffmann including associated specialties, affiliations and a list of published articles.
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217
Citations
6983
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Recent Articles
1.
Schiffmann R, Mengel E, Wallace M, Rochmann C, Turnbull J, Krupnick R, et al.
Adv Ther
. 2024 May;
41(7):2907-2923.
PMID: 38802634
Introduction: Gaucher disease type 3 (GD3) is a genetic, progressive lysosomal storage disorder characterized by visceral manifestations and chronic neurologic symptoms (e.g., horizontal ophthalmoplegia/supranuclear gaze palsy, ataxia, dystonia). The investigational...
2.
Asundi J, Zhang C, Donnelly-Roberts D, Solorio J, Challagundla M, Connelly C, et al.
CNS Neurosci Ther
. 2024 Feb;
30(2):e14600.
PMID: 38357857
Aim: Characterize Growth Differentiation Factor 15 (GDF15) as a secreted biomarker of the integrated stress response (ISR) within the central nervous system (CNS). Methods: We determined GDF15 levels utilizing in ...
3.
Dabrowska-Schlepp P, Busch A, Shen J, Cheong R, Madsen L, Mascher D, et al.
JIMD Rep
. 2023 Nov;
64(6):460-467.
PMID: 37927484
Fabry disease (FD, OMIM 301500) is a rare X-linked inherited lysosomal storage disorder associated with reduced activities of α-galactosidase A (aGal, EC 3.2.1.22). The current standard of care for FD...
4.
Potic A, Perrier S, Radovic T, Gavrilovic S, Ostojic J, Tran L, et al.
Orphanet J Rare Dis
. 2023 Jul;
18(1):187.
PMID: 37443037
Background: Neurodegeneration due to cerebral folate transport deficiency is a rare autosomal recessive disorder caused by biallelic pathogenic variants in FOLR1. Onset typically occurs in late infancy and is characterized...
5.
Ebenuwa I, Violet P, Padayatty S, Wang Y, Tu H, Wilkins K, et al.
J Nutr
. 2023 May;
153(7):1994-2003.
PMID: 37229630
Background: Reduced plasma vitamin C concentrations in chronic diseases may result from abnormal urinary excretion of vitamin C: a renal leak. We hypothesized that vitamin C renal leak may be...
6.
Hallows W, Skvorak K, Agard N, Kruse N, Zhang X, Zhu Y, et al.
Sci Rep
. 2023 Mar;
13(1):4748.
PMID: 36959353
Fabry disease is caused by a deficiency of α-galactosidase A (GLA) leading to the lysosomal accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids. Fabry patients experience significant damage to the heart,...
7.
Koch R, Soler-Alfonso C, Kiely B, Asai A, Smith A, Bali D, et al.
Mol Genet Metab
. 2023 Feb;
138(3):107525.
PMID: 36796138
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently,...
8.
Schiffmann R, Cox T, Dedieu J, Gaemers S, Hennermann J, Ida H, et al.
Brain
. 2022 Oct;
146(2):461-474.
PMID: 36256599
Gaucher disease type 3 is a chronic neuronopathic disorder with wide-ranging effects, including hepatosplenomegaly, anaemia, thrombocytopenia, skeletal disease and diverse neurological manifestations. Biallelic mutations in GBA1 reduce lysosomal acid β-glucosidase...
9.
Shen J, Balaji U, Shigeyasu K, Okugawa Y, Jabbarzadeh-Tabrizi S, Day T, et al.
Mol Genet Metab Rep
. 2022 Oct;
33:100919.
PMID: 36186841
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and subsequent accumulation of glycosphingolipids with terminal α-D-galactosyl residues. The molecular process through which this...
10.
van der Knaap M, Bonkowsky J, Vanderver A, Schiffmann R, Krageloh-Mann I, Bertini E, et al.
Neurol Genet
. 2022 Feb;
8(2):e657.
PMID: 35128050
Vanishing white matter (VWM) is a leukodystrophy caused by recessive variants in the genes . It is characterized by chronic neurologic deterioration with superimposed stress-provoked episodes of rapid decline. Disease...