Zobrazeno 1 - 10 of 129 pro vyhledávání: '"Esther Noel"'
1
Akademický článek
Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study
Autor: Nathalie Guffon, Delphine Genevaz, Didier Lacombe, Eliane Le Peillet Feuillet, Pascale Bausson, Esther Noel, François Maillot, Nadia Belmatoug, Roland Jaussaud
Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage diseases caused by defective enzyme activity involved in the catalysis of glycosaminoglycans. Published data on adult patients with MPS remains scarce. Therefo
Externí odkaz: https://doaj.org/article/54cba021256f4894804da96c364142a1
Zobrazit plný text záznamu
2
Akademický článek
Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes
Autor: Jérémie Gautheron, Lara Lima, Baris Akinci, Jamila Zammouri, Martine Auclair, Sema Kalkan Ucar, Samim Ozen, Canan Altay, Bridget E. Bax, Ivan Nemazanyy, Véronique Lenoir, Carina Prip-Buus, Cécile Acquaviva-Bourdain, Olivier Lascols, Bruno Fève, Corinne Vigouroux, Esther Noel, Isabelle Jéru
Publikováno v: BMC Medicine, Vol 20, Iss 1, Pp 1-21 (2022)
Abstract Background Thymidine phosphorylase (TP), encoded by the TYMP gene, is a cytosolic enzyme essential for the nucleotide salvage pathway. TP catalyzes the phosphorylation of the deoxyribonucleosides, thymidine and 2′-deoxyuridine, to thymine
Externí odkaz: https://doaj.org/article/f23ef112e8e2444f9f3eb4e619a1fccc
Zobrazit plný text záznamu
3
Akademický článek
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Autor: Wladimir Mauhin, Olivier Benveniste, Damien Amelin, Clémence Montagner, Foudil Lamari, Catherine Caillaud, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D'Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot, Kim-Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Didier Lacombe, Hélène Maillard, Olivier Lidove
Publikováno v: PLoS ONE, Vol 15, Iss 5, p e0233460 (2020)
BACKGROUD:Fabry disease (OMIM #301 500), the most prevalent lysosomal storage disease, is caused by enzymatic defects in alpha-galactosidase A (GLA gene; Xq22.1). Fabry disease has historically been characterized by progressive renal failure, early s
Externí odkaz: https://doaj.org/article/689a2edfa43d4ed89aefddaf3cda906d
Zobrazit plný text záznamu
5
Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease
Autor: Wladimir Mauhin, Abdellah Tebani, Damien Amelin, Lenaig Abily-Donval, Foudil Lamari, Jonathan London, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Esther Noel, Agathe Masseau, Didier Lacombe, Hélène Maillard, Soumeya Bekri, Olivier Lidove, Olivier Benveniste
Publikováno v: Journal of Clinical Medicine
Journal of Clinical Medicine, 2022, 11 (5), pp.1233. ⟨10.3390/jcm11051233⟩
Journal of Clinical Medicine; Volume 11; Issue 5; Pages: 1233
International audience; Fabry disease is an X-linked lysosomal disease in which defects in the alpha-galactosidase A enzyme activity lead to the ubiquitous accumulation of glycosphingolipids. Whereas the classic disease is characterized by neuropathi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5e8b1c4374cded59551e077c4c4ea5b
https://pubmed.ncbi.nlm.nih.gov/35268324
Zobrazit plný text záznamu
6
Coagulation Parameters in Adult Patients With Type-1 Gaucher Disease
Autor: Olivier Lidove, Vanessa Leguy-Seguin, Patrick Cherin, Esther Noel, R. Jaussaud, Isabelle Marie, Christian Lavigne, Agathe Masseau, Christine Serratrice, François Maillot
Publikováno v: Journal of Hematology
Journal of Hematology, Vol. 8, No 3 (2019) pp. 121-124
Background: Gaucher disease is a rare inborn error of lysosomal metabolism, characterized by lysosomal storage of the beta-glucosylceramide. Bleedings observed in type-1 Gaucher disease (GD1) are commonly attributed to a low platelet count, but they
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f83903d59646cd0f742ef47b937affc7
https://doi.org/10.14740/jh543
Zobrazit plný text záznamu
7
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients
Autor: Christian Lavigne, Lena Damaj, Esther Noel, François Maillot, Sybill Charriere, Adrien Bigot, Vincent Rigalleau, Claire Douillard, Fanny Mochel, Elsa Kaphan, Ségolène Toquet, Amélie Servettaz, Samir Mesli, Gérard Besson, Roselyne Garnotel, Caroline Moreau, Agathe Roubertie, Sylvie Odent, Isabelle Redonnet-Vernhet, Jean Baptiste Arnoux, Marta Spodenkiewicz, Aude Servais
Publikováno v: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2021, ⟨10.1002/jimd.12403⟩
BACKGROUND: Urea cycle disorders (UCD) are rare diseases that usually affect neonates or young children. During decompensations, hyperammonemia is neurotoxic, leading to severe symptoms and even coma and death if not treated rapidly. AIMS: Descriptio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88826c8496ec65eeeef85daf47f752f6
https://pubmed.ncbi.nlm.nih.gov/34014557
Zobrazit plný text záznamu
8
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease
Autor: Marie Matignon, Olivier Benveniste, Agathe Masseau, Kim-Heang Ly, Didier Lacombe, Gérard Besson, François Maillot, Christian Lavigne, D. Amelin, Esther Noel, Foudil Lamari, Catherine Caillaud, Wladimir Mauhin, Hélène Maillard, Olivier Lidove, C. Montagner, Thierry Zenone, Marjolaine Willems, Vanessa Leguy-Seguin, Pauline D’Halluin, Bertrand Dussol, Fabien Labombarda, Claire Douillard
Publikováno v: PLoS ONE
PLoS ONE, Public Library of Science, 2020, 15 (5), pp.e0233460. ⟨10.1371/journal.pone.0233460⟩
PLoS ONE, Vol 15, Iss 5, p e0233460 (2020)
PLoS ONE, 2020, 15 (5), pp.e0233460. ⟨10.1371/journal.pone.0233460⟩
International audience; Backgroud: Fabry disease (OMIM #301 500), the most prevalent lysosomal storage disease, is caused by enzymatic defects in alpha-galactosidase A (GLA gene; Xq22.1). Fabry disease has historically been characterized by progressi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6548e833adef8aed2cbae0f87965da0
https://hal.sorbonne-universite.fr/hal-02871577/document
Zobrazit plný text záznamu
9
A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease
Autor: Marc G. Berger, Foudil Lamari, Stéphane Marret, Esther Noel, Oliver Benveniste, Soumeya Bekri, Juliette Berger, Yann Nadjar, Lenaig Abily-Donval, Abdellah Tebani, O. Lidove, W. Mauhin, Céline Lesueur, Pascal Laforêt
Publikováno v: Journal of Clinical Medicine
Journal of Clinical Medicine, MDPI, 2020, 9 (5), pp.1325. ⟨10.3390/jcm9051325⟩
Volume 9
Issue 5
Journal of Clinical Medicine, 2020, 9 (5), pp.1325. ⟨10.3390/jcm9051325⟩
Journal of Clinical Medicine, Vol 9, Iss 1325, p 1325 (2020)
International audience; Background: Fabry disease (FD) is an X-linked progressive lysosomal disease (LD) due to glycosphingolipid metabolism impairment. Currently, plasmatic globotriaosylsphingosine (LysoGb3) is used for disease diagnosis and monitor
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0b3feedab0b414f20c96e794369e224
https://hal.sorbonne-universite.fr/hal-02881962
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje