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Manuel Schiff

universite paris cite

39H指数
276论文数
5.9K被引数
收录论文 109
发表时间
Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency丙酮酸脱氢酶复合物缺乏症的诊断与管理共识指南
err2026-10-03
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errOAAI
errNandaki Keshavan; Julia Neugebauer; Marcello Bellusci; Enrico Bertini; Garry Brown; Niklas Darin; Suzanne DeBrosse; Lucy Drexler; Stefan Drexler; Gregory M. Enns; Rebecca D. Ganetzky; Kelly Gilbert; Austin Larson; Rebecca Legi; April N. Lehman; Camile Newby; Manuel Schiff; Rachel Skeath; Peter W. Stacpoole; Sarah Thompson; Emma Watt; Saskia B. Wortmann; Jirair K. Bedoyan; Shamima Rahman
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Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study钴胺素相关再甲基化障碍:妊娠结局与产前治疗—新病例及文献研究
err2026-09-06
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PREAI
errKarolina M. Stepien; Jolanta Sykut-Cegielska; Jennifer Sloan; Flavia Piazzon; Sarah Bick; Juliette Bouchereau; Edwin C. Ferren; Nina Gold; Apolline Imbard; Mirian C. H. Janssen; Pavel Jesina; Lisa A. Joseph; Amanda Krzywdzińska-Rogowska; Louise Lapagesse; Fanny Mochel; Carol Van Ryzin; Manuel Schiff; Ida Vanessa Schwartz; Audrey Thurm; Wadih M. Zein; Charles P. Venditti; Martina Huemer; Irini Manoli
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TTC19-related mitochondrial disease: A characteristic neuroimaging signature?TTC19相关线粒体疾病:一种特征性神经影像标志物?
err2026-07-01
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PREAI
errBerat, Claire-Marine; Barcia, Giulia; Gaignard, Pauline; Assouline, Zahra; de la Cruz, Elisa; Francois-Heude, Marie-Celine; Roubertie, Agathe; Cances, Claude; Dufour, Louis; Alison, Marianne; Patat, Olivier; Trimouille, Aurelien; Saadi, Samira Ait-El-Mkadem; Rotig, Agnes; Hully, Marie; Rouzier, Cecile; Desguerre, Isabelle; Boddaert, Nathalie; Schiff, Manuel
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Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study移植后丙酸血症患者的长期随访:一项回顾性法国儿科和成人队列研究
err2026-06-25
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errTristan Mekdade; Claire-Marine Bérat; Manuel Schiff; Margaux Gaschignard; Juliette Bouchereau; Jean-Baptiste Arnoux; Claire Francoz; Aude Servais; Myriam Dao; Vickie Lacroix; Julien Maquet; Apolline Imbard; Edouard Le Guillou; Clément Pontoizeau; Jean-François Benoist; Mehdi Oualha; Marion Grimaud; Charles de Marcellus; Laurent Sabbah; Claire Mayer; Christophe Chardot; Carmen Capito; Diala Khraiche; Florence Lacaille; Pascale de Lonlay; Anaïs Brassier
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Vitamin-Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy维生素应答性障碍:从分子基础到临床表现和治疗
err2026-06-03
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errCécile Acquaviva; Yann Nadjar; Manuel Schiff; Christine Vianey-Saban; Alain Fouilhoux; Jean-François Benoist
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From variant interpretation to structural discovery: A new Zinc-binding domain in PARS2从变异注释到结构发现:PARS2中一个新的锌结合结构域
err2026-05-01
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errOAAI
errHoebeke, Celia; Engel, Camille; Berat, Claire-Marine; Milh, Mathieu; Chaussenot, Annabelle; Boddaert, Nathalie; Chabrol, Brigitte; Saadi, Samira Ait-El-Mkadem; Fragaki, Konstantina; Pereira, Silvia; Lepelley, Alice; Bannwarth, Sylvie; Navarro, Lucile Riera; Paquis-Flucklinger, Veronique; Schiff, Manuel; Sissler, Marie; Rouzier, Cecile
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Body composition in adults with phenylketonuria: A 5 years follow-up study苯丙酮尿症成年患者身体成分:一项5年随访研究
err2026-05-01
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PREAI
errFranceschetto, Bianca Fasolo; Moutapam-Ngamby-Adriaansen, Yannick; Tressel, Nathalie; de Luca, Arnaud; Schiff, Manuel; Poloni, Soraia; Schwartz, Ida Vanessa D.; Maillot, Francois
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Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine TherapyPNPO缺乏症应在子宫内进行治疗吗?产前维生素B6治疗的临床发现
err2026-04-20
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errde Puyraimond, Chloe; Pichard, Samia; Girard, Muriel; Delanne, Julian; Faivre, Laurence; Imbard, Apolline; Baurand, Amandine; Benoist, Jean-Francois; Mills, Philippa B.; Clayton, Peter T.; Schiff, Manuel
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Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based StatementsMELAS和卒中样发作的诊断标准与管理:基于共识的声明
err2026-04-18
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errOAAI
errMichelangelo Mancuso; Marcello Bellusci; Valerio Carelli; Irenaeus de Coo; Daria Diodato; Felix Distelmaier; Omar Hikmat; Michio Hirano; Rita Horvath; Amel Karaa; Thomas Klopstock; Mary Kay Koenig; Cornelia Kornblum; Chiara La Morgia; Piervito Lopriore; Mika Henrik Martikainen; Robert McFarland; Olimpia Musumeci; Robert D. S. Pitceathly; Guido Primiano; Shamima Rahman; Fernando Scaglia; Andrew Schaefer; Manuel Schiff; Luisa Semmler; Costanza Lamperti; Serenella Servidei
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No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases干扰素信号与线粒体疾病患者培养的皮肤成纤维细胞中线粒体DNA/RNA的细胞质泄漏之间无相关性
err2026-04-01
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errMarchais, Manon; Pennisi, Alessandra; Pierga, Alexandre; Lepelley, Alice; Cagnard, Nicolas; Bole, Christine; Nitschke, Patrick; Hamici, Mohamed; Rieux-Laucat, Frederic; Schiff, Manuel; Munnich, Arnold; Rotig, Agnes
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Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French Cohort甲基丙二酸血症移植后的急性神经并发症:一项35例法国队列研究
err2026-03-13
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errOAAI
errAdélaïde Vissac; Eugénie Sarda; Charles-Joris Roux; Manuel Schiff; Claire-Marine Bérat; Juliette Bouchereau; Jean-Baptiste Arnoux; Chloé de Puyraimond; Margaux Gaschignard; Tristan Mekdade; Ugo Cucinotta; Claire Mayer; Valérie Barbier; Jean François Benoist; Mehdi Oualha; Carmen Capito; Christophe Chardot; Myriam Dao; Aude Servais; Claire Francoz; Laurène Dehoux; Florence Lacaille; Isabelle Desguerre; Nathalie Boddaert; Pascale de Lonlay; Anaïs Brassier
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Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study表征临床事件发生频率并评估生物标志物在丙酸血症中的表现:一项自然病史研究
err2026-03-09
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errBernd C. Schwahn; Gerard T. Berry; Hilary J. Vernon; Hong Li; J. Lawrence Merritt II; Manuel Schiff; Brigitte Chabrol; Javier De las Heras; Jerry Vockley; Chung Lee; Dwight D. Koeberl; Barbara K. Burton; Stephanie Grunewald; George A. Diaz; Can Ficicioglu; Thomas Morgan; Junxiang Luo; Husain Attarwala; Min Liang; Sue Perera; Vanja Sikirica
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Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris科摩罗地区严重精氨酸酶1缺乏症聚集:马约特岛17例与巴黎10例患者临床、神经影像及分子特征比较
err2026-02-12
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errAurélie de Bruyne; Apolline Imbard; Charles-Joris Roux; Abdourhahim Chamouine; Camille Schwab; Anaïs Brassier; Jean-Baptiste Arnoux; Juliette Bouchereau; Cécile Laroche-Raynaud; Tristan Mekdade; Margaux Gaschignard; Claire-Marine Berat; Clément Pontoizeau; Stéphanie Gobin-Limballe; Pascale de Lonlay; Jean-François Benoist; Manuel Schiff
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Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate肝细胞癌:接受吡哆醛磷酸酯治疗患者的严重并发症
err2026-01-01
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errBrands, Marion M.; de Puyraimond, Chloe; Gospe Jr, Sidney M.; Schiff, Manuel M.; Jaeger, Bregje; Koot, Bart G.; Raphael, Martine F.; Lubout, Charlotte M.; Soto, Bertrand; Delanne, Julian; Imbard, Apolline; Zempel, John; Kraal, Kathelijne C.; Scheenstra, Rene; Clayton, Peter T.
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Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?严重甲基丙二酸血症和丙酸血症的营养管理:多少医疗食品算过量?
err2025-12-04
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errOAAI
errMargoses, Diane; Imbard, Apolline; Pontoizeau, Clement; Brassier, Anais; Arnoux, Jean-Baptiste; Bouchereau, Juliette; Berat, Claire-Marine; Assoun, Murielle; Belloche, Claire; Dewulf, Sabine; Dubois, Sandrine; Samba, Benedicte; Servais, Aude; Dao, Myriam; Le Guillou, Edouard; de Colnet, Amelie; Ottolenghi, Chris; de Lonlay, Pascale; Benoist, Jean-Francois; Schiff, Manuel
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Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow通过联合分析2-OPP、6-Oxo-Pipecolate和Pipecolate,在丁基化FIA-MS/MS工作流程中推进对吡哆醇依赖性癫痫-ALDH7A1的新生儿筛查
err2025-09-29
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errOAAI
errMylène Donge; Sandrine Marie; Amandine Pochet; Lionel Marcelis; Geraldine Luis; François Boemer; Clément Prouteau; Samir Mesli; Matthias Cuykx; Thao Nguyen-Khoa; David Guénet; Aurélie Empain; Magalie Barth; Benjamin Dauriat; Cécile Laroche-Raynaud; Corinne De Laet; Patrick Verloo; An I. Jonckheere; Manuel Schiff; Marie-Cécile Nassogne; Joseph P. Dewulf
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Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS-MS Workflow通过联合分析2-OPP、6-Oxo-Pipecolate和Pipecolate,在丁基化FIA-MS-MS工作流程中推进吡哆醇依赖性癫痫-ALDH7A1的新生儿筛查
err2025-08-20
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PREAI
errMylène Donge; Sandrine Marie; Amandine Pochet; Lionel Marcelis; Geraldine Luis; François Boemer; Clément Prouteau; Samir Mesli; Matthias Cuykx; Thao Nguyen-Khoa; David Guénet; Aurélie Empain; Magalie Barth; Benjamin Dauriat; Cécile Laroche-Raynaud; Corinne De Laet; Patrick Verloo; An I. Jonckheere; Manuel Schiff; Marie-Cécile Nassogne; Joseph P. Dewulf
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Clinical, biochemical, and molecular findings in adults with hyperammonemia: A French bi-centric retrospective study临床、生物化学和分子发现:成人高氨血症的法国双中心回顾性研究
err2025-08-13
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errOAAI
errJulien Maquet; Clément Pontoizeau; Apolline Imbard; Stéphanie Gobin-Limballe; Jean-Baptiste Arnoux; Édouard Le Guillou; Patricia Dubot; Anaïs Brassier; Claire-Marine Bérat; Lucile Altenburger; Juliette Bouchereau; Aude Servais; Myriam Dao; Jean-Paul Bonnefont; Chris Ottolenghi; Jean-François Benoist; Pascale de Lonlay; Manuel Schiff
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Childhood POLG-related disorders: Focus on polyradiculoneuropathy儿童POLG相关疾病:聚焦于多发性神经根神经病
err2025-07-30
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PREAI
errClaire-Marine Bérat; Marie Hully; Agnès Rötig; Giulia Barcia; Zahra Assouline; Marie-Thérèse Abi-Warde; Christine Barnerias; Elise Payen; Marianne Jaroussie; Pauline Gaignard; Elise Lebigot; Agathe Roubertie; Nathalie Boddaert; Charles-Joris Roux; Pascale de Lonlay; Isabelle Desguerre; Arnold Munnich; Manuel Schiff; Cyril Gitiaux
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