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

ανά Kibleur, Yves, Dobbelaere, Dries, Barth, Magalie, Brassier, Anaïs, Guffon, Nathalie
Έκδοση 2014

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

ανά Guffon, Nathalie, Journeau, Pierre, Brassier, Anaïs, Leger, Juliane, Chevallier, Bertrand
Τόπος έκδοσης Eur J Pediatr (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

ανά Vijay, Suresh, Brassier, Anais, Ghosh, Arunabha, Fecarotta, Simona, Abel, Florian, Marulkar, Sachin, Jones, Simon A.
Τόπος έκδοσης Orphanet J Rare Dis (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...

ανά Vijay, Suresh, Brassier, Anais, Ghosh, Arunabha, Fecarotta, Simona, Abel, Florian, Marulkar, Sachin, Jones, Simon A.
Τόπος έκδοσης Orphanet J Rare Dis (2021)

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

ανά Bouchemal, Nadia, Ouss, Lisa, Brassier, Anaïs, Barbier, Valérie, Gobin, Stéphanie, Hubert, Laurence, de Lonlay, Pascale, Le Moyec, Laurence
Τόπος έκδοσης Orphanet J Rare Dis (2019)

Type 3 Gaucher disease, diagnostic in adulthood

ανά Detollenaere, Charles, Benghergbia, Monia, Brassier, Anaïs, de Villemeur, Thierry Billette, Amsallem, Daniel, Berger, Marc, Stirnemann, Jérôme, Belmatoug, Nadia, Rose, Christian
Τόπος έκδοσης Mol Genet Metab Rep (2017)

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

ανά Ceballos-Picot, Irène, Le Dantec, Aurélia, Brassier, Anaïs, Jaïs, Jean-Philippe, Ledroit, Morgan, Cahu, Julie, Ea, Hang-Korng, Daignan-Fornier, Bertrand, Pinson, Benoît
Τόπος έκδοσης Orphanet J Rare Dis (2015)

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

ανά 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
Τόπος έκδοσης Orphanet J Rare Dis (2021)

Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles

ανά Pontoizeau, Clément, Habarou, Florence, Brassier, Anaïs, Veauville-Merllié, Alice, Grisel, Coraline, Arnoux, Jean-Baptiste, Vianey-Saban, Christine, Barouki, Robert, Chadefaux-Vekemans, Bernadette, Acquaviva, Cécile, de Lonlay, Pascale, Ottolenghi, Chris
Τόπος έκδοσης JIMD Rep (2015)

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

ανά 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
Τόπος έκδοσης Orphanet J Rare Dis (2016)

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

ανά 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.
Τόπος έκδοσης Int J Mol Sci (2017)

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

ανά 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
Τόπος έκδοσης Mol Genet Metab Rep (2020)

Congenital hyperinsulinism: current trends in diagnosis and therapy

ανά 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
Έκδοση 2011

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...

ανά 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
Τόπος έκδοσης JIMD Rep (2021)

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

ανά Brassier, Anais, Gobin, Stephanie, Arnoux, Jean Baptiste, Valayannopoulos, Vassili, Habarou, Florence, Kossorotoff, Manoelle, Servais, Aude, Barbier, Valerie, Dubois, Sandrine, Touati, Guy, Barouki, Robert, Lesage, Fabrice, Dupic, Laurent, Bonnefont, Jean Paul, Ottolenghi, Chris, De Lonlay, Pascale
Τόπος έκδοσης Orphanet J Rare Dis (2015)

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

ανά Jones, Simon A., Rojas-Caro, Sandra, Quinn, Anthony G., Friedman, Mark, Marulkar, Sachin, Ezgu, Fatih, Zaki, Osama, Gargus, J. Jay, Hughes, Joanne, Plantaz, Dominique, Vara, Roshni, Eckert, Stephen, Arnoux, Jean-Baptiste, Brassier, Anais, Le Quan Sang, Kim-Hanh, Valayannopoulos, Vassili
Τόπος έκδοσης Orphanet J Rare Dis (2017)

Administration of gamma‐hydroxybutyrate instead of beta‐hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a med...

ανά Tuchmann‐Durand, Caroline, Thevenet, Eloise, Moulin, Florence, Lesage, Fabrice, Bouchereau, Juliette, Oualha, Mehdi, Khraiche, Diala, Brassier, Anaïs, Wicker, Camille, Gobin‐Limballe, Stéphanie, Arnoux, Jean‐Baptiste, Lacaille, Florence, Wicart, Clotilde, Coat, Bruno, Schlattler, Joel, Cisternino, Salvatore, Renolleau, Sylvain, Secretan, Philippe‐Henri, De Lonlay, Pascale
Τόπος έκδοσης JIMD Rep (2020)

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

ανά Mauhin, Wladimir, Habarou, Florence, Gobin, Stéphanie, Servais, Aude, Brassier, Anaïs, Grisel, Coraline, Roda, Célina, Pinto, Graziella, Moshous, Despina, Ghalim, Fahd, Krug, Pauline, Deltour, Nelly, Pontoizeau, Clément, Dubois, Sandrine, Assoun, Murielle, Galmiche, Louise, Bonnefont, Jean-Paul, Ottolenghi, Chris, de Blic, Jacques, Arnoux, Jean-Baptiste, de Lonlay, Pascale
Τόπος έκδοσης Orphanet J Rare Dis (2017)

Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry

ανά 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., Fantin, Bruno, Belmatoug, Nadia
Τόπος έκδοσης Int J Mol Sci (2020)

Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort

ανά Bérat, Claire-Marine, Roda, Célina, Brassier, Anais, Bouchereau, Juliette, Wicker, Camille, Servais, Aude, Dubois, Sandrine, Assoun, Murielle, Belloche, Claire, Barbier, Valérie, Leboeuf, Virginie, Petit, François M., Gaignard, Pauline, Lebigot, Elise, Bérat, Pierre-Jean, Pontoizeau, Clément, Touati, Guy, Talbotec, Cécile, Campeotto, Florence, Ottolenghi, Chris, Arnoux, Jean-Baptiste, de Lonlay pascale, Pascale
Τόπος έκδοσης Mol Genet Metab Rep (2021)