Amarilis Sanchez-Valle

Nicola Longo 4 collaborations

Jerry Vockley 3 collaborations

Barbara Burton 3 collaborations

John Phillips 2 collaborations

Pranoot Tanpaiboon 2 collaborations

Stephanie Grunewald 2 collaborations

Elaine Murphy 2 collaborations

Jason Cataldo 2 collaborations

Rhonda E Schnur 2 collaborations

Rami Abou Jamra 2 collaborations

None None 2 collaborations

Ingo Helbig 2 collaborations

Boris Keren 2 collaborations

Saskia M Maas 2 collaborations

Kirsty McWalter 2 collaborations

Jane Juusola 2 collaborations

Bruce D Gelb 2 collaborations

Jaime Flores-Torres 2 collaborations

Gerard Berry 1 collaboration

Kimberly Chapman 1 collaboration

Xiaoxiao Lu 1 collaboration

Yuri A Zarate 1 collaboration

Tomoko Uehara 1 collaboration

Kota Abe 1 collaboration

Masayuki Oginuma 1 collaboration

Sora Harako 1 collaboration

Shizuka Ishitani 1 collaboration

Anna-Elina Lehesjoki 1 collaboration

Tatjana Bierhals 1 collaboration

Katja Kloth 1 collaboration

Nadja Ehmke 1 collaboration

Denise Horn 1 collaboration

Manuel Holtgrewe 1 collaboration

Katherine Anderson 1 collaboration

David Viskochil 1 collaboration

Courtney L Edgar-Zarate 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Michelle M Morrow 1 collaboration

John Pappas 1 collaboration

Rachel Rabin 1 collaboration

Mikko Muona 1 collaboration

Anna-Kaisa Anttonen 1 collaboration

Konrad Platzer 1 collaboration

Johannes Luppe 1 collaboration

Janina Gburek-Augustat 1 collaboration

Tadashi Kaname 1 collaboration

Nobuhiko Okamoto 1 collaboration

Seiji Mizuno 1 collaboration

Yusaku Kaido 1 collaboration

Yoshiaki Ohkuma 1 collaboration

Yutaka Hirose 1 collaboration

Tohru Ishitani 1 collaboration

Kenjiro Kosaki 1 collaboration

Gerard T Berry 1 collaboration

Alexandra Bowden 1 collaboration

Wencong Chen 1 collaboration

Chao-Yin Chen 1 collaboration

Deborah Marsden 1 collaboration

Emil Kakkis 1 collaboration

Anne H O'Donnell-Luria 1 collaboration

Lynn S Pais 1 collaboration

Víctor Faundes 1 collaboration

Jordan C Wood 1 collaboration

Abigail Sveden 1 collaboration

Victor Luria 1 collaboration

Andrea Accogli 1 collaboration

Kimberly Amburgey 1 collaboration

Britt Marie Anderlid 1 collaboration

Silvia Azzarello-Burri 1 collaboration

Alice A Basinger 1 collaboration

Claudia Bianchini 1 collaboration

Lynne M Bird 1 collaboration

Rebecca Buchert 1 collaboration

Wilfrid Carre 1 collaboration

Sophia Ceulemans 1 collaboration

Perrine Charles 1 collaboration

Helen Cox 1 collaboration

Lisa Culliton 1 collaboration

Aurora Currò 1 collaboration

Florence Demurger 1 collaboration

James J Dowling 1 collaboration

Benedicte Duban-Bedu 1 collaboration

Christèle Dubourg 1 collaboration

Saga Elise Eiset 1 collaboration

Luis F Escobar 1 collaboration

Alessandra Ferrarini 1 collaboration

Tobias B Haack 1 collaboration

Mona Hashim 1 collaboration

Solveig Heide 1 collaboration

Katherine L Helbig 1 collaboration

Raul Heredia 1 collaboration

Delphine Héron 1 collaboration

Bertrand Isidor 1 collaboration

Amy R Jonasson 1 collaboration

Pascal Joset 1 collaboration

Fernando Kok 1 collaboration

Hester Y Kroes 1 collaboration

Alinoë Lavillaureix 1 collaboration

Xin Lu 1 collaboration

Gustavo H B Maegawa 1 collaboration

Carlo L M Marcelis 1 collaboration

Paul R Mark 1 collaboration

Marcelo R Masruha 1 collaboration

Heather M McLaughlin 1 collaboration

Esther U Melchinger 1 collaboration

Saadet Mercimek-Andrews 1 collaboration

Caroline Nava 1 collaboration

Manuela Pendziwiat 1 collaboration

Richard Person 1 collaboration

Gian Paolo Ramelli 1 collaboration

Luiza L P Ramos 1 collaboration

Anita Rauch 1 collaboration

Caitlin Reavey 1 collaboration

Alessandra Renieri 1 collaboration

Angelika Rieß 1 collaboration

Shifteh Sattar 1 collaboration

Carol Saunders 1 collaboration

Niklas Schwarz 1 collaboration

Thomas Smol 1 collaboration

Myriam Srour 1 collaboration

Katharina Steindl 1 collaboration

Steffen Syrbe 1 collaboration

Jenny C Taylor 1 collaboration

Aida Telegrafi 1 collaboration

Isabelle Thiffault 1 collaboration

Doris A Trauner 1 collaboration

Helio van der Linden 1 collaboration

Silvana van Koningsbruggen 1 collaboration

Laurent Villard 1 collaboration

Ida Vogel 1 collaboration

Julie Vogt 1 collaboration

Yvonne G Weber 1 collaboration

Ingrid M Wentzensen 1 collaboration

Elysa Widjaja 1 collaboration

Jaroslav Zak 1 collaboration

Samantha Baxter 1 collaboration

Siddharth Banka 1 collaboration

Lance H Rodan 1 collaboration

Jennifer N Dines 1 collaboration

Yajuan J Liu 1 collaboration

Whitney Neufeld-Kaiser 1 collaboration

Taylor Sawyer 1 collaboration

Gisele E Ishak 1 collaboration

Hannah M Tully 1 collaboration

Melissa Racobaldo 1 collaboration

Christine M Disteche 1 collaboration

Erin Torti 1 collaboration

Dan Doherty 1 collaboration

Katrina M Dipple 1 collaboration

Teresa T Ho 1 collaboration

Sheeba Varghese Gupta 1 collaboration

Susan Waisbren 1 collaboration

Barbara K Burton 1 collaboration

Annette Feigenbaum 1 collaboration

Laura L Konczal 1 collaboration

Joshua Lilienstein 1 collaboration

Shawn E McCandless 1 collaboration

Richard Rowell 1 collaboration

Kaleigh B Whitehall 1 collaboration

Dong Li 1 collaboration

Qin Wang 1 collaboration

Allan Bayat 1 collaboration

Mark R Battig 1 collaboration

Yijing Zhou 1 collaboration

Daniëlle Gm Bosch 1 collaboration

Gijs van Haaften 1 collaboration

Leslie Granger 1 collaboration

Andrea K Petersen 1 collaboration

Luis A Pérez-Jurado 1 collaboration

Gemma Aznar-Laín 1 collaboration

Anushree Aneja 1 collaboration

Miroslava Hancarova 1 collaboration

Sarka Bendova 1 collaboration

Martin Schwarz 1 collaboration

Radka Kremlíková Pourová 1 collaboration

Zdenek Sedlacek 1 collaboration

Beth A Keena 1 collaboration

Michael E March 1 collaboration

Cuiping Hou 1 collaboration

Nora O'Connor 1 collaboration

Elizabeth J Bhoj 1 collaboration

Margaret H Harr 1 collaboration

Gabrielle Lemire 1 collaboration

Kym M Boycott 1 collaboration

Meghan C Towne 1 collaboration

Megan Li 1 collaboration

Mark Tarnopolsky 1 collaboration

Lauren Brady 1 collaboration

Michael J Parker 1 collaboration

Hanna Faghfoury 1 collaboration

Lea Kristin Parsley 1 collaboration

Emanuele Agolini 1 collaboration

Maria Lisa Dentici 1 collaboration

Antonio Novelli 1 collaboration

Meredith S Wright 1 collaboration

Rachel Palmquist 1 collaboration

Khanh Lai 1 collaboration

Marcello Scala 1 collaboration

Pasquale Striano 1 collaboration

Michele Iacomino 1 collaboration

Federico Zara 1 collaboration

Annina Cooper 1 collaboration

Timothy J Maarup 1 collaboration

Melissa Byler 1 collaboration

Robert Roger Lebel 1 collaboration

Tugce B Balci 1 collaboration

Raymond J Louie 1 collaboration

Michael J Lyons 1 collaboration

Jessica Douglas 1 collaboration

Catherine B Nowak 1 collaboration

Alexandra Afenjar 1 collaboration

Juliane Hoyer 1 collaboration

Mahdi M Motazacker 1 collaboration

Julian A Martinez-Agosto 1 collaboration

Ahna M Rabani 1 collaboration

Elizabeth M McCormick 1 collaboration

Marni Falk 1 collaboration

Sarah M Ruggiero 1 collaboration

Rikke S Møller 1 collaboration

Lino Tessarollo 1 collaboration

Francesco Tomassoni-Ardori 1 collaboration

Mary Ellen Palko 1 collaboration

Tzung-Chien Hsieh 1 collaboration

Peter M Krawitz 1 collaboration

Mythily Ganapathi 1 collaboration

Vaidehi Jobanputra 1 collaboration

Ashley Wilson 1 collaboration

John Greally 1 collaboration

Sébastien Jacquemont 1 collaboration

Khadijé Jizi 1 collaboration

Bruel Ange-Line 1 collaboration

Chloé Quelin 1 collaboration

Vinod K Misra 1 collaboration

Erika Chick 1 collaboration

Corrado Romano 1 collaboration

Donatella Greco 1 collaboration

Alessia Arena 1 collaboration

Manuela Morleo 1 collaboration

Vincenzo Nigro 1 collaboration

Rie Seyama 1 collaboration

Yuri Uchiyama 1 collaboration

Naomichi Matsumoto 1 collaboration

Ryoji Taira 1 collaboration

Katsuya Tashiro 1 collaboration

Yasunari Sakai 1 collaboration

Gökhan Yigit 1 collaboration

Bernd Wollnik 1 collaboration

Michael Wagner 1 collaboration

Barbara Kutsche 1 collaboration

Anna Ce Hurst 1 collaboration

Michelle L Thompson 1 collaboration

Ryan J Schmidt 1 collaboration

Linda M Randolph 1 collaboration

Rebecca C Spillmann 1 collaboration

Vandana Shashi 1 collaboration

Edward J Higginbotham 1 collaboration

Dawn Cordeiro 1 collaboration

Amanda Carnevale 1 collaboration

Gregory Costain 1 collaboration

Tayyaba Khan 1 collaboration

Benoît Funalot 1 collaboration

Frederic Tran Mau-Them 1 collaboration

Luis Fernandez Garcia Moya 1 collaboration

Sixto García-Miñaúr 1 collaboration

Matthew Osmond 1 collaboration

Lauren Chad 1 collaboration

Nada Quercia 1 collaboration

Diana Carrasco 1 collaboration

Chumei Li 1 collaboration

Meghan Kelley 1 collaboration

Mathilde Nizon 1 collaboration

Brynjar O Jensson 1 collaboration

Patrick Sulem 1 collaboration

Kari Stefansson 1 collaboration

Svetlana Gorokhova 1 collaboration

Tiffany Busa 1 collaboration

Marlène Rio 1 collaboration

Hamza Hadj Abdallah 1 collaboration

Marion Lesieur-Sebellin 1 collaboration

Jeanne Amiel 1 collaboration

Véronique Pingault 1 collaboration

Sandra Mercier 1 collaboration

Marie Vincent 1 collaboration

Christophe Philippe 1 collaboration

Clemence Fatus-Fauconnier 1 collaboration

Kathryn Friend 1 collaboration

Rebecca K Halligan 1 collaboration

Sunita Biswas 1 collaboration

Jane Mr Rosser 1 collaboration

Cheryl Shoubridge 1 collaboration

Mark A Corbett 1 collaboration

Christopher Barnett 1 collaboration

Jozef Gecz 1 collaboration

Kathleen A Leppig 1 collaboration

Anne Slavotinek 1 collaboration

Carlo Marcelis 1 collaboration

Rolph Pfundt 1 collaboration

Bert Ba de Vries 1 collaboration

Marjon A van Slegtenhorst 1 collaboration

Alice S Brooks 1 collaboration

Benjamin Cogne 1 collaboration

Thomas Rambaud 1 collaboration

Zeynep Tümer 1 collaboration

Elaine H Zackai 1 collaboration

Naiara Akizu 1 collaboration

Yuanquan Song 1 collaboration

Hakon Hakonarson 1 collaboration

Corey Hicks 1 collaboration

David Dimmock 1 collaboration

Harvey Levy 1 collaboration

Krista Viau 1 collaboration

Heather Bausell 1 collaboration

Deborah A Bilder 1 collaboration

Christel Gross 1 collaboration

Hope Northrup 1 collaboration

Fran Rohr 1 collaboration

Stephanie Sacharow 1 collaboration

Mary Stuy 1 collaboration

Janet Thomas 1 collaboration

Roberto Zori 1 collaboration

Cary O Harding 1 collaboration

An N Dang Do 1 collaboration

Irene J Chang 1 collaboration

Xutian Jiang 1 collaboration

Lynne A Wolfe 1 collaboration

Bobby G Ng 1 collaboration

Christina Lam 1 collaboration

Katrina Allis 1 collaboration

Hana Hansikova 1 collaboration

Nina Ondruskova 1 collaboration

Shawn D O'Connor 1 collaboration

Arve Vollo 1 collaboration

Raymond Y Wang 1 collaboration

Zoe Wolfenson 1 collaboration

John Perreault 1 collaboration

Daniel S Ory 1 collaboration

Hudson H Freeze 1 collaboration

J Lawrence Merritt 1 collaboration

Forbes D Porter 1 collaboration

Jose R Duncan 1 collaboration

Valerie Panzarino 1 collaboration

Jessica Marie Rodriguez 1 collaboration

Russell S Kirby 1 collaboration

Pauline E Schneeberger 1 collaboration

Fanny Kortüm 1 collaboration

Georg Christoph Korenke 1 collaboration

Malik Alawi 1 collaboration

René Santer 1 collaboration

Mathias Woidy 1 collaboration

Daniela Buhas 1 collaboration

Stephanie Fox 1 collaboration

Majid Alfadhel 1 collaboration

Bryn D Webb 1 collaboration

Emanuele G Coci 1 collaboration

Manuela Siekmeyer 1 collaboration

Saskia Biskup 1 collaboration

Corina Heller 1 collaboration

Esther M Maier 1 collaboration

Poupak Javaher-Haghighi 1 collaboration

Maria F Bedeschi 1 collaboration

Paola F Ajmone 1 collaboration

Maria Iascone 1 collaboration

Hilde Peeters 1 collaboration

Katleen Ballon 1 collaboration

Jaak Jaeken 1 collaboration

Aroa Rodríguez Alonso 1 collaboration

María Palomares-Bralo 1 collaboration

Fernando Santos-Simarro 1 collaboration

Marije E C Meuwissen 1 collaboration

Diane Beysen 1 collaboration

R Frank Kooy 1 collaboration

Henry Houlden 1 collaboration

David Murphy 1 collaboration

Mohammad Doosti 1 collaboration

Ehsan G Karimiani 1 collaboration

Majid Mojarrad 1 collaboration

Reza Maroofian 1 collaboration

Lenka Noskova 1 collaboration

Stanislav Kmoch 1 collaboration

Tomas Honzik 1 collaboration

Heidi Cope 1 collaboration

Ingo Kurth 1 collaboration

Maja Hempel 1 collaboration

Kerstin Kutsche 1 collaboration

Menno D Stellingwerff 1 collaboration

Sonia Figuccia 1 collaboration

Emanuele Bellacchio 1 collaboration

Karin Alvarez 1 collaboration

Claudia Castiglioni 1 collaboration

Pinar Topaloglu 1 collaboration

Chloe A Stutterd 1 collaboration

Corrie E Erasmus 1 collaboration

Sebastien Lebon 1 collaboration

Sarah Hughes 1 collaboration

Thomas Schmitt-Mechelke 1 collaboration

Gessica Vasco 1 collaboration

Gabriel Chow 1 collaboration

Elisa Rahikkala 1 collaboration

Cristina Dallabona 1 collaboration

Cecilia Okuma 1 collaboration

Chiara Aiello 1 collaboration

Paola Goffrini 1 collaboration

Truus E M Abbink 1 collaboration

Enrico S Bertini 1 collaboration

Marjo S Van der Knaap 1 collaboration

Jane D Carver 1 collaboration

Affiliations

Publications (15)

Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study.

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.

Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD).

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.

Prolonged clonazepam-induced withdrawal symptoms in an NAT2 ultraslow acetylator.

Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Treating the whole patient: Facilitating health care for patients facing health inequity.

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.

Lower Urinary Tract Obstruction in Newborns.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.

Réseau de co-auteurs