Výsledky vyhledávání - "Elsa, Kaphan"

Akademický článek

Persistent IgG anticardiolipin autoantibodies are associated with post-COVID syndrome

Autor: Daniel Bertin, Elsa Kaphan, Samuel Weber, Benjamin Babacci, Robin Arcani, Benoit Faucher, Amélie Ménard, Alexandre Brodovitch, Jean Louis Mege, Nathalie Bardin

Publikováno v: International Journal of Infectious Diseases, Vol 113, Iss , Pp 23-25 (2021)

Persistence of various symptoms in patients who have recovered from coronavirus disease 2019 (COVID-19) was recently defined as ‘long COVID’ or ‘post-COVID syndrome’ (PCS). This article reports a case of a 58-year-old woman who, although reco

Externí odkaz: https://doaj.org/article/4d3e36ecd9c2424b8b34f3755bc04657

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Akademický článek

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

Publikováno v: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)

Abstract Background Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes. The clinical presentation and evolution of NP-C and the effect of miglust

Externí odkaz: https://doaj.org/article/78eb2cb04dab43348fe7f8edcd6dfb27

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Akademický článek

Psychiatric adult-onset of urea cycle disorders: A case-series

Autor: Adrien Bigot, Paul Brunault, Christian Lavigne, François Feillet, Sylvie Odent, Elsa Kaphan, Christel Thauvin, Vanessa Leguy, Pierre Broué, Michel C. Tchan, François Maillot

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 103-109 (2017)

Adult onset urea cycle disorders (UCD) may present with psychiatric symptoms, occasionally as the initial presentation. We aimed to describe the characteristics of patients presenting with a psychiatric adult-onset of UCDs, to discuss which signs cou

Externí odkaz: https://doaj.org/article/9f33a8b11a5f4d4aa19ea5f5c6edf082

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Correction to: [18F]FDG brain PET findings in CLIPPERS at diagnosis and therapeutic follow-up

Autor: Tatiana Horowitz, Elsa Kaphan, Eric Guedj

Publikováno v: European Journal of Nuclear Medicine and Molecular Imaging
European Journal of Nuclear Medicine and Molecular Imaging, 2022, ⟨10.1007/s00259-022-05950-2⟩

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91a6ea1a7324a818271e6d4090eb17f9
https://hal.science/hal-03770595

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Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability

Autor: Samira Ait-El-Mkadem Saadi, Elsa Kaphan, Amaya Morales Jaurrieta, Konstantina Fragaki, Annabelle Chaussenot, Sylvie Bannwarth, André Maues De Paula, Véronique Paquis-Flucklinger, Cécile Rouzier

Publikováno v: European journal of medical genetics. 65(12)

Biallelic rare variants in NARS2 that encode the mitochondrial asparaginyl-tRNA synthetase are associated with a wide spectrum of clinical phenotypes ranging from severe neurodegenerative disorders to isolated mitochondrial myopathy or deafness. To d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7e2264b8777802a9d9cf5c1338bf5b9
https://pubmed.ncbi.nlm.nih.gov/36252909

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[18F]FDG brain PET findings in CLIPPERS at diagnosis and therapeutic follow-up

Autor: Tatiana Horowitz, Elsa Kaphan, Eric Guedj

Publikováno v: European Journal of Nuclear Medicine and Molecular Imaging
European Journal of Nuclear Medicine and Molecular Imaging, In press, ⟨10.1007/s00259-022-05939-x⟩

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a14be8dbda570adf368374599d1d68d
https://hal.science/hal-03770599/document

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Herpetic encephalitis: which treatment for which body weight?

Autor: Marine Mulatero, Mohamed Boucekine, Olivier Felician, Salah Boussen, Gilles Kaplanski, Pascal Rossi, Philippe Parola, Andréas Stein, Philippe Brouqui, Jean Christophe Lagier, Marc Leone, Elsa Kaphan

Publikováno v: Journal of Neurology
Journal of Neurology, 2022, ⟨10.1007/s00415-022-10981-8⟩

Prognosis of herpetic encephalitis remains severe, with a high proportion of deaths and sequelae. Its treatment is based on acyclovir, but the precise and most effective modalities of this treatment are not established. The objective of this study wa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcceefebad5a86edfcf436d764d41299
https://hal-amu.archives-ouvertes.fr/hal-03679000

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Persistent IgG anticardiolipin autoantibodies are associated with post-COVID syndrome

Autor: Alexandre Brodovitch, Benjamin Babacci, Elsa Kaphan, Nathalie Bardin, J.L. Mège, Robin Arcani, Daniel Bertin, Samuel Weber, Benoit Faucher, Amélie Menard

Publikováno v: International Journal of Infectious Diseases
International Journal of Infectious Diseases, 2021, 113, pp.23-25. ⟨10.1016/j.ijid.2021.09.079⟩
International Journal of Infectious Diseases, Vol 113, Iss, Pp 23-25 (2021)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb167daab9b097ccc79572c335dd74d8
https://hal-amu.archives-ouvertes.fr/hal-03662372

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