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Magali Pettazzoni

hospices civils de lyon

9H指数
60论文数
448被引数
收录论文 25
发表时间
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Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease溶酶体酶的多次MSMS测量能够在评估戈谢病患者的患者中意外诊断出酸性鞘磷脂酶缺乏症
errMolecular Genetics and Metabolism
IF3.5
err2026-08-19
err0
errOAAI
errAntoine Rivaux; Nathalie Guffon; Cécile Pagan; Anaïs Brassier; François Guérin; Laurent Pasquier; Youssef Sekkach; Babacar Ndiaye; Alain Fouilhoux; Cécile Acquaviva-Bourdain; Séverine Ruet; Roseline Froissart; Magali Pettazzoni
err分享
err收藏
Sertraline Treatment Can Mimic Niemann-Pick Type C Biomarker Profile: A Diagnostic Pitfall西酞普兰治疗可模拟尼曼-匹克C型生物标志物谱：一个诊断陷阱
errAnnals of Clinical and Translational Neurology
IF3.9
err2026-04-27
err0
errOAAI
errMaria Makrygianni; Cecile Pagan; Antony Citterio-Quentin; Isabelle Rouvet; Giulia Dingeo; Cyril Hanin; Claudine Laurent-Levinson; Samia Pichard; Bénédicte Héron; Clément Gourguechon; Daniele Mandia; Jerome Guitton; Carole Lacout; Nicolas Schleinitz; Florient Potier; Olivier Flabeau; Elsa Besse-Pinot; Foudil Lamari; Magali Pettazzoni; Yann Nadjar
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err收藏
Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation稳定型1型戈谢病患者酶替代疗法间隔延长：一项非劣效性序贯试验模拟研究
errJournal of Internal Medicine
IF9.2
err2026-02-28
err0
errOAAI
errMaxime Beydon; Jérôme Stirnemann; Karima Yousfi; Samira Zebiche; Dalil Hamroun; Anaïs Brassier; Samia Pichard; Laure Swiader; Thierry Billette de Villemeur; Bénédicte Héron; Florence Dalbies; Bérengère Cador; Anne-Sophie Guemann; Francis Gaches; Bénédicte Hivert; Vanessa Leguy-Seguin; Agathe Masseau; Yves-Marie Pers; Magali Pettazzoni; Soumeya Bekri; Catherine Caillaud; Edouard Le Guillou; Marie Szymanowski; Leonardo Astudillo; Wladimir Mauhin; Yann Nadjar; Christine Serratrice; Marc G. Berger; Fabrice Camou; Nadia Belmatoug; Yann Nguyen; the French Evaluation of Gaucher Disease Treatment Committee
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Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases专家设计的资料表和基于AI的患者症状分析以应对遗传代谢病的诊断延误
errJournal of Inherited Metabolic Disease
IF3.8
err2026-02-17
err0
errOAAI
errCano, Aline; Chen, Xiaoyi; Khemiri, Azza; Brassier, Anais; Jean-Baptiste, Arnoux; Froissart, Roseline; Bouchereau, Juliette; Hoebeke, Celia; Mazodier, Karin; Heron, Benedicte; Labrune, Philippe; Caillaud, Catherine; Cheillan, David; Nadjar, Yann; Pichard, Samia; Imbard, Apolline; Pettazzoni, Magali; Douillard, Claire; Nadia, Belmatoug; Calatayud, Anna-line; Zerguini, Mounira; Garcelon, Nicolas; Benoist, Jean-francois; Acquaviva, Cecile; De Lonlay, Pascale
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err收藏
Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I拉罗尼酶（laronidase）作为唯一酶疗法在黏多糖贮积症I型患者队列中的临床结局
errOrphanet Journal of Rare Diseases
IF3.5
err2025-12-06
err0
errOAAI
errNathalie Guffon; Magali Pettazzoni; Nicolas Pangaud; Nathalie Reynes; Eliane Le Peillet Feuillet; Pierre Journeau; Alain Fouilhoux
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French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease法国国家诊断与护理方案（Protocole National De Diagnostic et de Soins; PNDS）：戈谢病
errOrphanet Journal of Rare Diseases
IF3.5
err2025-10-28
err0
errOAAI
errFabrice Camou; Christine Serratrice; Magali Pettazzoni; Yann Nadjar; Anaïs Brassier; Soumeya Bekri; Bérengère Cador-Rousseau; Louis Dagneaux; Florence Dalbies; Roseline Froissart; Delphine Genevaz; Anne-Sophie Guemann; Bénédicte Hivert; Vanessa Leguy-Seguin; Catherine Marcel; Agathe Masseau; Martin Michaud; Yves-Marie Pers; Jérôme Stirnemann; Sabrina Vergnaud; Yann Nguyen; Catherine Caillaud; Samia Pichard; Marc G. Berger; Nadia Belmatoug
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err收藏
Lysosomal Storage Disorders
errSEMINARS IN RESPIRATORY AND CRITICAL CARE MEDICINE
IF2.7
err2025-10-01
err0
PREAI
errCefalo, Jacopo; Crestani, Bruno; Guyard, Alice; Pettazzoni, Magali; Mauhin, Wladimir; Debray, Marie-Pierre; Borie, Raphael
err分享
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Acid sphingomyelinase deficiency: Laboratory diagnosis, genetic and epidemiologic aspects of a 50-year French cohort
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-05-01
err0
PREAI
errFroissart, Roseline; Pettazzoni, Magali; Pagan, Cecile; Levade, Thierry; Vanier, Marie T.
err分享
err收藏
Natural history of adult-onset metachromatic leukodystrophy成人型异染性脑白质营养不良的自然史
errJOURNAL OF NEUROLOGY
IF4.6
err2025-04-01
err0
errOAAI
errMandia, Daniele; Dufour, Juliette; Fenu, Silvia; Salsano, Ettore; Benzoni, Chiara; Sellal, Francois; Pariente, Jeremie; Cengiz, Nilguen; Pettazzoni, Magali; Levade, Thierry; Lamari, Foudil; Caillaud, Catherine; La Piana, Roberta; Brassat, David; Durand-Dubief, Francoise; Besson, Gerard; Odent, Sylvie; Devos, David; Barbay, Melanie; Makrygianni, Maria; Kumperscak, Hojka Gregoric; Froissart, Roseline; Nadjar, Yann
err分享
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Never-Treated, Non Splenectomised Patients With Gaucher Disease (The French GANT Study): The Prospective Follow-Up未经治疗、未行脾切除术的戈谢病患者（法国GANT研究）：前瞻性随访
errJOURNAL OF INHERITED METABOLIC DISEASE
IF3.8
err2025-03-20
err0
PREAI
errNasce, Alberto; Nguyen, Yann; Belmatoug, Nadia; Yousfi, Karima; Camou, Fabrice; Pettazzoni, Magali; Dalbies, Florence; Cador, Berengere; Brassier, Anais; Pichard, Samia; Hivert, Benedicte; Swiader, Laure; Bertchansky, Ivan; Seguin, Vanessa Leguy; Mauhin, Wladimir; Astudillo, Leonardo; Rainsard, Isabelle Hau; Humbert, Sebastien; Hoebeke, Celia; Hamroun, Dalil; Masseau, Agathe; Berger, Marc G.; Stirnemann, Jerome; Serratrice, Christine
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Kinetic evolution of plasma biomarkers in acid sphingomyelinase deficiency patients under enzyme replacement therapy: A French experience
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errPettazzoni, Magali; Theophile, Eva; Pagan, Cecile; Acquaviva, Cecile; Froissart, Roseline
err分享
err收藏
Acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C: Cytologic features of bone marrow and peripheral blood smears can guide the diagnosis
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errPettazzoni, Magali; Girard, Sandrine; Pagan, Cecile; Froissart, Roseline; Baseggio, Lucile
err分享
err收藏
When technology improves diagnosis: Incidental discovery of ASMD in patients suspected with Gaucher disease
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errPettazzoni, Magali; Theophile, Eva; Acquaviva, Cecile; Froissart, Roseline
err分享
err收藏
Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report黏多糖贮积症I型的产前诊断：基于肝脾肿大和粗糙面容的病例报告
errBMC PREGNANCY AND CHILDBIRTH
IF2.7
err2025-01-03
err0
errOAAI
errAgranier, Maxime; Demurger, Florence; Dubourg, Christele; Fromageot, Jerome; Dufour, Anne-Sophie Cabaret; Launay, Erika; Gournay, Magalie; Lefevre, Charles; Froissart, Roseline; Pettazzoni, Magali; Rollier, Paul
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err收藏
How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears
errHEMASPHERE
IF14.6
err2024-11-05
err0
errOAAI
errGirard, Sandrine; Pettazzoni, Magali; Froissart, Roseline; Pagan, Cecile; Boyer, Thomas; Dulucq, Stephanie; Monteiro, Valerie Goncalves; Lechevalier, Nicolas; Loosveld, Marie; Lours, Camille; Mayeur-Rousse, Caroline; Pannetier, Melanie; Peillon, Caroline; Rosenthal, Maria-Alessandra; Hieng, Sonnthida Sep; Trichet, Catherine; Baseggio, Lucile
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Intestinal absorption of sphingosine: new insights on generated ceramide species using stable isotope tracing in vitro
errJOURNAL OF LIPID RESEARCH
IF4.1
err2024-06-01
err1
errOAAI
errCalzada, Catherine; Cheillan, David; Ritsch, Nina; Vors, Cecile; Durand, Annie; Pesenti, Sandra; Pettazzoni, Magali; Meugnier, Emmanuelle; Michalski, Marie-Caroline; Penhoat, Armelle
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Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B)
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2023-04-17
err32
errOAAI
errGeberhiwot, Tarekegn; Wasserstein, Melissa; Wanninayake, Subadra; Bolton, Shaun Christopher; Dardis, Andrea; Lehman, Anna; Lidove, Olivier; Dawson, Charlotte; Giugliani, Roberto; Imrie, Jackie; Hopkin, Justin; Green, James; Corbeira, Daniel de Vicente; Madathil, Shyam; Mengel, Eugen; Ezgu, Fatih; Pettazzoni, Magali; Sjouke, Barbara; Hollak, Carla; Vanier, Marie T.; McGovern, Margaret; Schuchman, Edward
err分享
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LC-MS/MS quantification of three C16 sulfatide species in dried blood spots for the diagnosis and treatment monitoring of metachromatic leukodystrophy
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-02-01
err0
PREAI
errPettazzoni, Magali; Rotaru, Irina; Ruet, Severine; Cheillan, David; Sevin, Caroline; Acquaviva-Bourdain, Cecile; Froissart, Roseline
err分享
err收藏
Overview of Niemann-Pick type C disease in France 1975-2020: Evolution in diagnostic strategy, molecular genetics profiles and phenotypic correlations
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-02-01
err0
PREAI
errPettazzonia, Magali; Pagan, Cecile; Latour, Philippe; Millat, Gilles; Nadjar, Yann; Heron, Benedicte; Vanier, Marie T.
err分享
err收藏
Acid sphingomyelinase deficiency: Epidemiologic and genetic aspects of a French cohort 1974-2021
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-02-01
err2
PREAI
errPettazzoni, Magali; Froissart, Roseline; Vanier, Marie T.
err分享
err收藏

研究方向

暂时未获取到该数据
合作学者
合作期刊
B
Bruno Crestani
H 指数: 83 · 论文数: 930
R
Roberto Giugliani
H 指数: 80 · 论文数: 1.4K
C
Carla E. M. Hollak
H 指数: 78 · 论文数: 435
E
Edward H. Schuchman
H 指数: 77 · 论文数: 517
B
Bruno Pereira
H 指数: 75 · 论文数: 1.7K
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