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Manuel Schiff

assistance publique hopitaux paris (aphp)

39H-index
272Paper Count
5.9KCitation Count
Published Papers 105
Publication Date
Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study
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
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
err2026-05-01
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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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Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy
err2026-04-20
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PREAI
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 Statements
err2026-04-18
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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
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
err2026-03-13
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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
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
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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Mild and late onset forms of type I 3-methylglutaconic aciduria presenting as isolated cerebellar ataxia without leukodystrophy: case reports and phenotype expansion
err2026-01-02
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PREAI
errBorel, Flavie; Thauvin, Christel; Schiff, Manuel; Duffourd, Yannis; Them, Frederic Tran Mau; Philippe, Christophe; Mochel, Fanny; Thomas, Quentin
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Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate
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?
err2025-12-04
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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
err2025-09-29
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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
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
err2025-08-13
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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
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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Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study
err2025-07-21
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errSebastian Roesch; Anna O'Sullivan; Stefan Tschani; Anna Baghdasaryan; Shanti Balasubramaniam; Ivo Barić; Lonneke de Boer; Sarah C. Grünert; Anna Guzek; Mirian Janssen; Zita Krumina; Mary Kay Koenig; Ashleigh M. Lewkowitz; Fanny Mochel; Arianne Monge Naldi; Barbara Plecko; Kerem Öztürk; Lauren O'Grady; Gillian Riordan; Daisy Rymen; Inderneel Sahai; René Santer; Manuel Schiff; Georg M. Stettner; Konstantinos Tsiakas; Sema Kalkan Uçar; Özlem Ünal Uzun; Corina Weigel; Peter Witters; Kajus Merkevicius; Johannes A. Mayr; Saskia B. Wortmann; Katarzyna Iwanicka-Pronicka
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Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications
err2025-06-11
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errSarah C. Grünert; Matthias R. Baumgartner; Juliette Bouchereau; Alberto Burlina; Peter T. Clayton; Javier de las Heras; Carlo Dionisi-Vici; Corinne Gemperle-Britschgi; Claudia Haase; Stanley H. Korman; Johannes Krämer; Eva Kühlwein; Esther M. Maier; Arianna Maiorana; Manuel Schiff; Carl Ulrich Schmid; Trine Tangeraas; Raina Yamamoto; Johannes Zschocke; Jörn Oliver Sass
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Bone mineral density in French adults with early-treated phenylketonuria
err2025-03-01
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PREAI
errDybal, Elisa; Maillot, Francois; Feillet, Francois; Fouilhoux, Alain; Astudillo, Leonardo; Lavigne, Christian; Arnoux, Jean-Baptiste; Odent, Sylvie; Gay, Claire; Schiff, Manuel; Mazodier, Karin; Kuster, Alice; Rigalleau, Vincent; Thauvin-Robinet, Christel; Leguy-Seguin, Vanessa; Douillard, Claire; Charriere, Sybil
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