J
Jean-Charles Deybach
Researcher at Paris Diderot University
Publications - 90
Citations - 4120
Jean-Charles Deybach is an academic researcher from Paris Diderot University. The author has contributed to research in topics: Erythropoietic protoporphyria & Acute intermittent porphyria. The author has an hindex of 37, co-authored 90 publications receiving 3720 citations. Previous affiliations of Jean-Charles Deybach include University of Paris & French Institute of Health and Medical Research.
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Journal ArticleDOI
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload
Sharon D. Whatley,Sarah Ducamp,Laurent Gouya,Bernard Grandchamp,Carole Beaumont,Michael Norman Badminton,George H. Elder,S. Alexander Holme,Alexander Vincent Anstey,Michelle Parker,Anne V. Corrigall,P.N. Meissner,Richard J Hift,Joanne T Marsden,Yun Ma,Giorgina Mieli-Vergani,Jean-Charles Deybach,Hervé Puy +17 more
TL;DR: Eight families with ALAS2 deletions, either c.1706-1709 delAGTG (p.E569GfsX24) or c.1699-1700 delAT ( p.M567EfsX2), resulting in frameshifts that lead to replacement or deletion of the 19-20 C-terminal residues of the enzyme, cause X-linked sideroblastic anemia, a previously unrecognized form of porphyria.
Journal ArticleDOI
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.
Laurent Gouya,Hervé Puy,A. M. Robreau,Monique Bourgeois,Jérôme Lamoril,Vasco Da Silva,Bernard Grandchamp,Jean-Charles Deybach +7 more
TL;DR: An intronic single nucleotide polymorphism (SNP) is identified, IVS3–48T/C, that modulates the use of a constitutive aberrant acceptor splice site in EPP and produces a decreased steady-state level of mRNA and the additional FECH enzyme deficiency necessary for EPP phenotypic expression.
Journal ArticleDOI
The incidence of inherited porphyrias in Europe.
George H. Elder,Pauline Harper,Michael Norman Badminton,Sverre Sandberg,Jean-Charles Deybach +4 more
TL;DR: The prevalence of symptomatic acute porphyria may be decreasing, possibly due to improved management, whereas the prevalence of erythropoietic protoporphyria (EPP) was less uniform between countries and, in some countries, exceeded previous estimates.
Journal ArticleDOI
Erythropoietic protoporphyria
TL;DR: Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.
Journal ArticleDOI
Afamelanotide for Erythropoietic Protoporphyria
Janneke G. Langendonk,Manisha Balwani,Karl E. Anderson,Herbert L. Bonkovsky,Alexander Vincent Anstey,D M Bissell,Joseph R. Bloomer,Christopher J Edwards,Norbert J. Neumann,Charles J. Parker,John D. Phillips,Henry W. Lim,Iltefat H. Hamzavi,Jean-Charles Deybach,Raili Kauppinen,Lesley E. Rhodes,Jorge Frank,Jorge Frank,Gillian M. Murphy,F. P J Karstens,Eric J.G. Sijbrands,F W M de Rooij,Mark Lebwohl,Hetanshi Naik,Colin R. Goding,J.H.P. Wilson,Robert J. Desnick +26 more
TL;DR: Afamelanotide had an acceptable side-effect and adverse-event profile and was associated with an increased duration of sun exposure without pain and improved quality of life in patients with erythropoietic protoporphyria.