Publications by authors named "Samia Pichard"

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The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, Rebecca Ganetzky, René G Feichtinger, Samia Pichard

Brain· November 2025

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French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease.
Fabrice Camou, Christine Serratrice, Magali Pettazzoni, Yann Nadjar, Anaïs Brassier, Samia Pichard

Orphanet J Rare Dis· October 2025

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Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades.
Yann Nguyen, Maxime Beydon, Karima Yousfi, Samira Zebiche, Dalil Hamroun, Samia Pichard

J Inherit Metab Dis· May 2025

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Never-Treated, Non Splenectomised Patients With Gaucher Disease (The French GANT Study): The Prospective Follow-Up.
Alberto Nasce, Yann Nguyen, Nadia Belmatoug, Karima Yousfi, Fabrice Camou, Samia Pichard

J Inherit Metab Dis· March 2025

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Acid sphingomyelinase deficiency in France: a retrospective survival study.
Wladimir Mauhin, Nathalie Guffon, Marie T Vanier, Roseline Froissart, Aline Cano, Samia Pichard

Orphanet J Rare Dis· August 2024

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Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Marine Tardieu, Céline Cudejko, Aline Cano, Célia Hoebeke, Delphine Bernoux, Samia Pichard

Eur J Neurol· September 2023

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Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019.
Domitille Laur, Samia Pichard, Soumeya Bekri, Catherine Caillaud, Roseline Froissart

J Inherit Metab Dis· September 2023

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Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.
Anaïs Brassier, Samia Pichard, Manuel Schiff, Juliette Bouchereau, Claire-Marine Bérat

Mol Genet Metab· August 2023

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Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, Pierre Broué, Claude Cances, Samia Pichard

Orphanet J Rare Dis· July 2023

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Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach.
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, Pascale De Lonlay, Jean-Baptiste Arnoux, Samia Pichard

J Pediatr· March 2023

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Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
Antoine Gardin, Martin Castelle, Samia Pichard, Aline Cano, Brigitte Chabrol

Bone Marrow Transplant· March 2023

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Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.
Priya S Kishnani, David Kronn, Anaïs Brassier, Alexander Broomfield, James Davison, Samia Pichard

Genet Med· February 2023

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Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening.
Hela Hajji, Apolline Imbard, Anne Spraul, Ludmia Taibi, Valérie Barbier, Samia Pichard

Mol Genet Metab Rep· December 2022

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Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Abdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, Stéphanie Torre, Laur Domitille, Samia Pichard

J Med Genet· April 2022

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Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, Pascale De Lonlay, Jean-Baptiste Arnoux, Samia Pichard

J Pediatr· March 2022

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Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities-the TENALYS study, a patient perspective survey.
Delphine Genevaz, Armelle Arnoux, Catherine Marcel, Anaïs Brassier, Samia Pichard

Orphanet J Rare Dis· February 2022

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LC-MS/MS Identification of Prolidase Deficiency: A Rare Cause of Infantile Hepatosplenomegaly.
Ludmia Taibi, Dimitri Schlemmer, Juliette Bouchereau, Claudine Causson, Samia Pichard

Clin Chem· January 2022

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Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort.
Bastien Estublier, Aline Cano, Célia Hoebeke, Samia Pichard, Didier Scavarda

Eur J Paediatr Neurol· January 2021

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Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing.
Auriane Cospain, Christèle Dubourg, Swellen Gastineau, Samia Pichard, Virginie Gandemer

Mol Genet Metab Rep· September 2020

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Paediatric multisystem inflammatory syndrome temporally associated with SARS-CoV-2 mimicking Kawasaki disease (Kawa-COVID-19): a multicentre cohort.
Marie Pouletty, Charlotte Borocco, Naim Ouldali, Marion Caseris, Romain Basmaci, Samia Pichard

Ann Rheum Dis· August 2020

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A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease.
Christine Serratrice, Jérôme Stirnemann, Amina Berrahal, Nadia Belmatoug, Fabrice Camou, Samia Pichard

J Clin Med· July 2020

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Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation.
Camille Desprairies, Apolline Imbard, Bérengère Koehl, Mathie Lorrot, Jean Gaschignard, Samia Pichard

Mol Genet Metab Rep· June 2020

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Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.
Alessandra Pennisi, Bruno Maranda, Jean-François Benoist, Véronique Baudouin, Odile Rigal, Samia Pichard

J Inherit Metab Dis· May 2020

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Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.
Aline Cano, Noemie Resseguier, Abdoulaye Ouattara, Pascale De Lonlay, Jean-Baptiste Arnoux, Samia Pichard

J Pediatr· May 2020

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Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry.
Yann Nguyen, Jérôme Stirnemann, Florent Lautredoux, Bérengère Cador, Monia Bengherbia, Samia Pichard

Int J Mol Sci· February 2020

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