Results from a Nationwide Cohort Temporary Utilization Authorization (ATU) Survey of Patients in France Treated with Pheburane(®) (Sodium Phenylbutyrate) Taste-Masked Granules

por Kibleur, Yves, Dobbelaere, Dries, Barth, Magalie, Brassier, Anaïs, Guffon, Nathalie
Publicado 2014

Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion

por Guffon, Nathalie, Journeau, Pierre, Brassier, Anaïs, Leger, Juliane, Chevallier, Bertrand
Publicado 2019

Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies

por Vijay, Suresh, Brassier, Anais, Ghosh, Arunabha, Fecarotta, Simona, Abel, Florian, Marulkar, Sachin, Jones, Simon A.
Publicado 2021

Correction to: Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-la...

por Vijay, Suresh, Brassier, Anais, Ghosh, Arunabha, Fecarotta, Simona, Abel, Florian, Marulkar, Sachin, Jones, Simon A.
Publicado 2021

Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France

por Mauhin, Wladimir, Borie, Raphaël, Dalbies, Florence, Douillard, Claire, Guffon, Nathalie, Lavigne, Christian, Lidove, Olivier, Brassier, Anaïs
Publicado 2022

Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: (1)H NMR spectroscopy and genetic testing

por Bouchemal, Nadia, Ouss, Lisa, Brassier, Anaïs, Barbier, Valérie, Gobin, Stéphanie, Hubert, Laurence, de Lonlay, Pascale, Le Moyec, Laurence
Publicado 2019

Type 3 Gaucher disease, diagnostic in adulthood

por Detollenaere, Charles, Benghergbia, Monia, Brassier, Anaïs, de Villemeur, Thierry Billette, Amsallem, Daniel, Berger, Marc, Stirnemann, Jérôme, Belmatoug, Nadia, Rose, Christian
Publicado 2017

New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients

por Ceballos-Picot, Irène, Le Dantec, Aurélia, Brassier, Anaïs, Jaïs, Jean-Philippe, Ledroit, Morgan, Cahu, Julie, Ea, Hang-Korng, Daignan-Fornier, Bertrand, Pinson, Benoît
Publicado 2015

Citrulline in the management of patients with urea cycle disorders

por Imbard, Apolline, Bouchereau, Juliette, Arnoux, Jean-Baptiste, Brassier, Anaïs, Schiff, Manuel, Bérat, Claire-Marine, Pontoizeau, Clément, Benoist, Jean-François, Josse, Constant, Montestruc, François, de Lonlay, Pascale
Publicado 2023

Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts

por Fernández-Eulate, Gorka, Martin, Gilles C., Dureau, Pascal, Speeg-Spatz, Claude, Brassier, Anais, Gillard, Perrine, Bremond-Gignac, Dominique, Thouvenin, Dominique, Pagan, Cecile, Lamari, Foudil, Nadjar, Yann
Publicado 2022

Long-term renal outcome in methylmalonic acidemia in adolescents and adults

por Dao, Myriam, Arnoux, Jean-Baptiste, Bienaimé, Frank, Brassier, Anaïs, Brazier, François, Benoist, Jean-François, Pontoizeau, Clément, Ottolenghi, Chris, Krug, Pauline, Boyer, Olivia, de Lonlay, Pascale, Servais, Aude
Publicado 2021

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study

por 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
Publicado 2023

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study

por Husson, Marie-Caroline, Schiff, Manuel, Fouilhoux, Alain, Cano, Aline, Dobbelaere, Dries, Brassier, Anais, Mention, Karine, Arnoux, Jean-Baptiste, Feillet, François, Chabrol, Brigitte, Guffon, Nathalie, Elie, Caroline, de Lonlay, Pascale
Publicado 2016

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

por Stirnemann, Jérôme, Belmatoug, Nadia, Camou, Fabrice, Serratrice, Christine, Froissart, Roseline, Caillaud, Catherine, Levade, Thierry, Astudillo, Leonardo, Serratrice, Jacques, Brassier, Anaïs, Rose, Christian, Billette de Villemeur, Thierry, Berger, Marc G.
Publicado 2017

Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort

por Wicker, Camille, Roda, Célina, Perry, Ariane, Arnoux, Jean Baptiste, Brassier, Anais, Castelle, Martin, Servais, Aude, Donadieu, Jean, Bouchereau, Juliette, Pigneur, Bénédicte, Labrune, Philippe, Ruemmele, Frank M., de Lonlay, Pascale
Publicado 2020

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

por 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
Publicado 2022

Congenital hyperinsulinism: current trends in diagnosis and therapy

por Arnoux, Jean-Baptiste, Verkarre, Virginie, Saint-Martin, Cécile, Montravers, Françoise, Brassier, Anaïs, Valayannopoulos, Vassili, Brunelle, Francis, Fournet, Jean-Christophe, Robert, Jean-Jacques, Aigrain, Yves, Bellanné-Chantelot, Christine, de Lonlay, Pascale
Publicado 2011

Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia

por Marelli, Cecilia, Fouilhoux, Alain, Benoist, Jean‐Francois, De Lonlay, Pascale, Guffon‐Fouilhoux, Nathalie, Brassier, Anais, Cano, Aline, Chabrol, Brigitte, Pennisi, Alessandra, Schiff, Manuel, Acquaviva, Cecile, Murphy, Elaine, Servais, Aude, Lachmann, Robin
Publicado 2022

Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observationa...

por de Lonlay, Pascale, Posset, Roland, Mütze, Ulrike, Mention, Karine, Lamireau, Delphine, Schiff, Manuel, Servais, Aude, Arnoux, Jean Baptiste, Brassier, Anaïs, Dao, Myriam, Douillard, Claire, Ottolenghi, Chris, Pontoizeau, Clément, Miotto, Federica, Le Mouhaër, Jeannie
Publicado 2021

Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up

por Demaret, Tanguy, Lacaille, Florence, Wicker, Camille, Arnoux, Jean-Baptiste, Bouchereau, Juliette, Belloche, Claire, Gitiaux, Cyril, Grevent, David, Broissand, Christine, Adjaoud, Dalila, Abi Warde, Marie-Thérèse, Plantaz, Dominique, Bekri, Soumeya, de Lonlay, Pascale, Brassier, Anaïs
Publicado 2021