OpenURL Connection Search

Select item for more details and to access through your institution.

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study.
Published in:
2016
By:
- Valayannopoulos, Vassili;
- Baruteau, Julien;
- Bueno Delgado, Maria;
- Cano, Aline;
- Couce, Maria L.;
- Del Toro, Mireia;
- Donati, Maria Alice;
- Garcia-Cazorla, Angeles;
- Gil-Ortega, David;
- Gomez-de Quero, Pedro;
- Guffon, Nathalie;
- Hofstede, Floris C.;
- Kalkan-Ucar, Sema;
- Coker, Mahmut;
- Lama-More, Rosa;
- Martinez-Pardo Casanova, Mercedes;
- Molina, Agustin;
- Pichard, Samia;
- Papadia, Francesco;
- Rosello, Patricia
Publication type:
journal article
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0244-7
By:
- Sabourdy, Frédérique;
- Mourey, Lionel;
- Trionnaire, Emmanuelle Le;
- Bednarek, Nathalie;
- Caillaud, Catherine;
- Yves Chaix;
- Delrue, Marie-Ange;
- Dusser, Anne;
- Froissart, Roseline;
- Garnotel, Roselyne;
- Guffon, Nathalie;
- Megarbane, André;
- de Baulny, Hélène Ogier;
- Pédespan, Jean-Michel;
- Pichard, Samia;
- Valayannopoulos, Vassili;
- Verloes, Alain;
- Levade, Thierry
Publication type:
Article
New spastic paraplegia phenotype associated to mutation of NFU1.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0237-6
By:
- Tonduti, Davide;
- Dorboz, Imen;
- Imbard, Apolline;
- Slama, Abdelhamid;
- Boutron, Audrey;
- Pichard, Samia;
- Elmaleh, Monique;
- Vallée, Louis;
- Benoist, Jean François;
- Ogier, Heléne;
- Boespflug-Tanguy, Odile
Publication type:
Article
Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1247, doi. 10.3390/ijms21041247
By:
- Nguyen, Yann;
- Stirnemann, Jérôme;
- Lautredoux, Florent;
- Cador, Bérengère;
- Bengherbia, Monia;
- Yousfi, Karima;
- Hamroun, Dalil;
- Astudillo, Leonardo;
- Billette de Villemeur, Thierry;
- Brassier, Anaïs;
- Camou, Fabrice;
- Dalbies, Florence;
- Dobbelaere, Dries;
- Gaches, Francis;
- Leguy-Seguin, Vanessa;
- Masseau, Agathe;
- Pers, Yves-Marie;
- Pichard, Samia;
- Serratrice, Christine;
- Berger, Marc G.
Publication type:
Article
Evolution of the retinal function by flash-ERG in one child suffering from neuronal ceroid lipofuscinosis CLN2 treated with cerliponase alpha: case report.
Published in:
Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 99, doi. 10.1007/s10633-021-09825-z
By:
- Rigaudière, Florence;
- Nasser, Hala;
- Pichard-Oumlil, Samia;
- Delouvrier, Eliane;
- Lopez-Hernandez, Elisa;
- Milani, Paolo;
- Auvin, Stéphane;
- Delanoë, Catherine
Publication type:
Article
Acid sphingomyelinase deficiency in France: a retrospective survival study.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03234-6
By:
- Mauhin, Wladimir;
- Guffon, Nathalie;
- Vanier, Marie T.;
- Froissart, Roseline;
- Cano, Aline;
- Douillard, Claire;
- Lavigne, Christian;
- Héron, Bénédicte;
- Belmatoug, Nadia;
- Uzunhan, Yurdagül;
- Lacombe, Didier;
- Levade, Thierry;
- Duvivier, Aymeric;
- Pulikottil-Jacob, Ruth;
- Laredo, Fernando;
- Pichard, Samia;
- Lidove, Olivier;
- Abi-Wardé, Marie-Thérèse;
- Berger, Marc;
- Berthoux, Emilie
Publication type:
Article
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02804-4
By:
- Freihuber, Cécile;
- Dahmani-Rabehi, Bahia;
- Brassier, Anaïs;
- Broué, Pierre;
- Cances, Claude;
- Chabrol, Brigitte;
- Eyer, Didier;
- Labarthe, François;
- Latour, Philippe;
- Levade, Thierry;
- Pichard, Samia;
- Sevin, Caroline;
- Vanier, Marie T.;
- Héron, Bénédicte
Publication type:
Article
Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50518-0
By:
- Bower, Alexandra;
- Imbard, Apolline;
- Benoist, Jean-François;
- Pichard, Samia;
- Rigal, Odile;
- Baud, Olivier;
- Schiff, Manuel
Publication type:
Article
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.
Published in:
2022
By:
- Genevaz, Delphine;
- Arnoux, Armelle;
- Marcel, Catherine;
- Brassier, Anaïs;
- Pichard, Samia;
- Feillet, François;
- Labarthe, François;
- Chabrol, Brigitte;
- Berger, Marc;
- Lapointe, Anne-Sophie;
- Frigout, Yvann;
- Héron, Bénédicte;
- Chatellier, Gilles;
- Belmatoug, Nadia
Publication type:
journal article
LC-MS/MS Identification of Prolidase Deficiency: A Rare Cause of Infantile Hepatosplenomegaly.
Published in:
Clinical Chemistry, 2022, v. 68, n. 3, p. 478, doi. 10.1093/clinchem/hvab208
By:
- Taibi, Ludmia;
- Schlemmer, Dimitri;
- Bouchereau, Juliette;
- Causson, Claudine;
- Pichard, Samia;
- Bourrat, Emmanuelle;
- Melki, Isabelle;
- Schiff, Manuel;
- Benoist, Jean-Franc¸ois;
- Imbard, Apolline
Publication type:
Article
Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis.
Published in:
2020
By:
- Dozières‐Puyravel, Blandine;
- Nasser, Hala;
- Elmaleh‐Bergès, Monique;
- Lopez Hernandez, Elisa;
- Gelot, Antoinette;
- Ilea, Adina;
- Delanoë, Catherine;
- Puech, Jean‐Philippe;
- Caillaud, Catherine;
- Pichard, Samia;
- Auvin, Stéphane;
- Dozières-Puyravel, Blandine;
- Elmaleh-Bergès, Monique;
- Puech, Jean-Philippe
Publication type:
journal article
Natural history of GM1 gangliosidosis—Retrospective cohort study of 61 French patients from 1998 to 2019.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 972, doi. 10.1002/jimd.12646
By:
- Laur, Domitille;
- Pichard, Samia;
- Bekri, Soumeya;
- Caillaud, Catherine;
- Froissart, Roseline;
- Levade, Thierry;
- Roubertie, Agathe;
- Desguerre, Isabelle;
- Héron, Bénédicte;
- Auvin, Stéphane
Publication type:
Article
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 540, doi. 10.1002/jimd.12203
By:
- Pennisi, Alessandra;
- Maranda, Bruno;
- Benoist, Jean‐François;
- Baudouin, Véronique;
- Rigal, Odile;
- Pichard, Samia;
- Santer, René;
- Romana Lepri, Francesca;
- Novelli, Antonio;
- Ogier de Baulny, Hélène;
- Dionisi‐Vici, Carlo;
- Schiff, Manuel
Publication type:
Article
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
Published in:
Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 415, doi. 10.1007/s10545-017-0021-y
By:
- Paquay, Stéphanie;
- Bourillon, Agnès;
- Pichard, Samia;
- Benoist, Jean-François;
- Lonlay, Pascale;
- Dobbelaere, Dries;
- Fouilhoux, Alain;
- Guffon, Nathalie;
- Rouvet, Isabelle;
- Labarthe, François;
- Mention, Karine;
- Touati, Guy;
- Valayannopoulos, Vassili;
- Ogier de Baulny, Hélène;
- Elmaleh-Bergès, Monique;
- Acquaviva-Bourdain, Cécile;
- Vianey-Saban, Christine;
- Schiff, Manuel
Publication type:
Article
Neurocognitive profiles in MSUD school-age patients.
Published in:
Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 377, doi. 10.1007/s10545-017-0033-7
By:
- Bouchereau, Juliette;
- Leduc-Leballeur, Julie;
- Pichard, Samia;
- Imbard, Apolline;
- Benoist, Jean-François;
- Abi Warde, Marie-Thérèse;
- Arnoux, Jean-Baptiste;
- Barbier, Valérie;
- Brassier, Anaïs;
- Broué, Pierre;
- Cano, Aline;
- Chabrol, Brigitte;
- Damon, Gilles;
- Gay, Claire;
- Guillain, Isabelle;
- Habarou, Florence;
- Lamireau, Delphine;
- Ottolenghi, Chris;
- Paermentier, Laetitia;
- Sabourdy, Frédérique
Publication type:
Article
Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study.
Published in:
European Journal of Neurology, 2023, v. 30, n. 9, p. 2828, doi. 10.1111/ene.15894
By:
- Tardieu, Marine;
- Cudejko, Céline;
- Cano, Aline;
- Hoebeke, Célia;
- Bernoux, Delphine;
- Goetz, Violette;
- Pichard, Samia;
- Brassier, Anaïs;
- Schiff, Manuel;
- Feillet, François;
- Rollier, Paul;
- Mention, Karine;
- Dobbelaere, Dries;
- Fouilhoux, Alain;
- Espil‐Taris, Caroline;
- Eyer, Didier;
- Huet, Frédéric;
- Walther‐Louvier, Ulrike;
- Barth, Magalie;
- Chevret, Laurent
Publication type:
Article

Found: 16