Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy
Chloe de Puyraimond, Samia Pichard, M Girard, Julian Delanne et autres
1 citationJIMD Reports
Samia Pichard
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64Publications signalées
1327Citations signalées
4Affiliations récentes
Institutions déclarées
Domaines associés
Lysosomal Storage Disorders ResearchMetabolism and Genetic DisordersGlycogen Storage Diseases and MyoclonusMitochondrial Function and PathologyGenomics and Rare Diseases
Publications récentes
Expert‐Designed Fact Sheets and AI ‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases
Aline Cano, X. CHEN, Azza Khemiri, Anaïs Brassier et autres
0 citationsJournal of Inherited Metabolic Disease
Description of the French cohort of ASMD type AB patients
Didier Lacombe, Anaïs Brassier, Samia Pichard, Marie Thérèse Abi Warde et autres
0 citationsMolecular Genetics and Metabolism
The genotypic and phenotypic landscape of PDHA1 -related pyruvate dehydrogenase complex deficiency
Kajus Merkevičius, Dmitrii Smirnov, Lea D. Schlieben, Rebecca Ganetzky et autres
4 citationsBrain
Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database
Alicia Le Bras, Pascale de Lonlay, Shahram Attarian, Anaïs Brassier et autres
2 citationsOrphanet Journal of Rare Diseases
EPH8 Natural History and Burden of Disease Among Patients With Juvenile GM2 Gangliosidoses in France
Daisy Ng-Mak, Sarah Ba, Samia Pichard, Laurence Watier et autres
0 citationsValue in Health
Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades
Yann Nguyen, Maxime Beydon, Karima Yousfi, S. Zebiche et autres
1 citationJournal of Inherited Metabolic Disease
Never‐Treated, Non Splenectomised Patients With Gaucher Disease (The French GANT Study): The Prospective Follow‐Up
Alberto Nascè, Yann Nguyen, Nadia Belmatoug, Karima Yousfi et autres
3 citationsJournal of Inherited Metabolic Disease
Acid sphingomyelinase deficiency in France: a retrospective survival study
Wladimir Mauhin, Nathalie Guffon, Marie T. Vanier, Roseline Froissart et autres
7 citationsOrphanet Journal of Rare Diseases
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, Noémie Resseguier, Aline Cano, Pascale de Lonlay et autres
0 citationsObstetrical & Gynecological Survey
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 et autres
18 citationsOrphanet Journal of Rare Diseases
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings
Anaïs Brassier, Samia Pichard, Manuel Schiff, Juliette Bouchereau et autres
4 citationsMolecular Genetics and Metabolism
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