Search Results - "Brassier, A."

Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID‐19 pandemic by Tard, Céline, Salort‐Campana, Emmanuelle, Michaud, Maud, Spinazzi, Marco, Nadaj Pakleza, Aleksandra, Durr, Hélène, Bouhour, Françoise, Lefeuvre, Claire, Thomas, Romain, Arrassi, Azzeddine, Taouagh, Nadjib, Solé, Guilhem, Laforêt, Pascal, P, Laforêt, D, Orlikowski, G, Bassez, D, Germain, JB, Noury, F, Zagnoli, C, Tard, JB, Davion, E, Salort‐Campana, A, Verschueren, S, Sacconi, A, Furby, A, Lacour, J, Praline, G, Sole, D, Renard, F, Bouibede, M, Fournier, F, Chapon, MC, Minot, M, Spinazzi, J, Hubert, F, Demurger, A, Magot, P, Cintas, A, Nadaj‐Pakleza, F, Bouhour, RJ, Morales, F, Esselin, P, Petiot, R, Jaussaud, S, Pichard, A, Brassier, J, Do‐Cao, F, Feillet, G, Touati, YA, Echaniz‐Laguna, L, Magy, M, Michaud, E, Lagrange, E, Krim, F, Taithe, AL, Bedat‐Millet, S, Nollet, U, Walter‐Louvier, B, Chabrol, M, Tardieu

“…Background and purpose Data on interruption of enzyme replacement therapy (ERT) are scarce in late onset Pompe disease. Due to the COVID‐19 crisis, eight…”
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Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis by Habarou, F., Brassier, A., Rio, M., Chrétien, D., Monnot, S., Barbier, V., Barouki, R., Bonnefont, J.P., Boddaert, N., Chadefaux-Vekemans, B., Le Moyec, L., Bastin, J., Ottolenghi, C., de Lonlay, P.

“…Pyruvate carboxylase (PC) is a biotin-containing mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, thereby being involved in…”
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Two new cases of serine deficiency disorders treated with l -serine by Brassier, A, Valayannopoulos, V, Bahi-Buisson, N, Wiame, Elsa, Hubert, L, Boddaert, N, Kaminska, A, Habarou, F, Desguerre, I, Van Schaftingen, E, Ottolenghi, C, de Lonlay, P

“…Abstract Objective and patients We report on two new cases of serine deficiency due respectively to 3-phosphoglycerate dehydrogenase (PHGDH) deficiency…”
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Management of 35 critically ill hyperammonemic neonates: Role of early administration of metabolite scavengers and continuous hemodialysis by Abily-Donval, L., Dupic, L., Joffre, C., Brassier, A., Arnoux, J.B., Grimaud, M., Lesage, F., de Saint Blanquat, L., Bekri, S., Marret, S., Pontoizeau, C., Renolleau, S., Ottolenghi, C., de Lonlay, P., Oualha, M.

“…Neurological involvement is frequent in inherited metabolic disease of the intoxication type. Hyperammonemic coma related to these diseases may cause severe…”
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Renal transplantation in 4 patients with methylmalonic aciduria: A cell therapy for metabolic disease by Brassier, A., Boyer, O., Valayannopoulos, V., Ottolenghi, C., Krug, P., Cosson, M.A., Touati, G., Arnoux, J.B., Barbier, V., Bahi-Buisson, N., Desguerre, I., Charbit, M., Benoist, J.F., Dupic, L., Aigrain, Y., Blanc, T., Salomon, R., Rabier, D., Guest, G., de Lonlay, P., Niaudet, P.

“…Patients with methylmalonic acidemia (MMA) may develop many complications despite medical treatment, in particular, severe central nervous system damage and…”
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Acute Psychosis in Propionic Acidemia: 2 Case Reports by Bâtie, C. Dejean de la, Barbier, V., Valayannopoulos, V., Touati, G., Maltret, A., Brassier, A., Arnoux, J. B., Grévent, D., Chadefaux, B., Ottolenghi, C., Canouï, P., Lonlay, P. de

“…Propionic acidemia is an inborn deficiency of propionyl–coenzyme A (CoA) carboxylase activity, which leads to mitochondrial accumulation of propionyl-CoA and…”
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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 by Freihuber, C, Dahmani, B, Brassier, A, Broue, P, Cances, C, Chabrol, B, Eyer, D, Labarthe, F, Latour, P, Levade, T, Pichard, S, Sevin, C, Vanier, M.T, Héron, B

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Developmental trajectories of 31 French Creatine Transporter Deficiency (SLC6A8) patients: New insights into outcome measures selection by Lion-François, L, Valayannopoulos, V, Perreton, N, Gavanon, M, Touil, N, Brun-Laurisse, A, Halep, H, Cheillan, D, Roche, L, Mercier, C, Roy, P, Brassier, A, Reymond, M.P, de Lonlay, P, Chabrol, B, Kassai, B, des Portes, V, Curie, A

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Prenatal symptoms and diagnosis of inherited metabolic diseases by Brassier, A, Ottolenghi, C, Boddaert, N, Sonigo, P, Attié-Bitach, T, Millischer-Bellaiche, A-E, Baujat, G, Cormier-Daire, V, Valayannopoulos, V, Seta, N, Piraud, M, Chadefaux-Vekemans, B, Vianey-Saban, C, Froissart, R, de Lonlay, P

“…Inherited metabolic diseases are mostly due to enzyme deficiency in one of numerous metabolic pathways, leading to absence of a compound downstream from and…”
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Enzyme replacement therapy for lysosomal storage disorders by Valayannopoulos, V, Brassier, A, Chabli, A, Caillaud, C, Lemoine, M, Odent, T, Arnoux, J B, de Lonlay, P

“…In the last years, much progress has been achieved in the treatment of lysosomal storage disorders. Until recently only symptomatic treatment was available for…”
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Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency by Habarou, F., Bahi-Buisson, N., Lebigot, E., Pontoizeau, C., Abi-Warde, M. T., Brassier, A., Le Quan Sang, K. H., Broissand, C., Vuillaumier-Barrot, S., Roubertie, A., Boutron, A., Ottolenghi, C., de Lonlay, P.

“…Objective: Ketogenic diet is the first line therapy for neurological symptoms associated with pyruvate dehydrogenase deficiency (PDHD) and intractable seizures…”
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Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance by Nicolas, C., Bednarek, N., Vuiblet, V., Boyer, O., Brassier, A., De Lonlay, P., Galmiche, L., Krug, P., Baudouin, V., Pichard, S., Schiff, M., Pietrement, C.

“…Lysinuric protein intolerance (LPI) is a rare autosomal recessive metabolic disorder, caused by defective transport of cationic amino acids at the basolateral…”
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O6-6 Acute neurovascular events in children with ornithine transcarbamylase (OTC) deficiency: a retrospective review by Brassier, A, Boddaert, N, Bonnefont, J.P, Desguerre, I, Kossorotoff, M, De Lonlay, P

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Le traitement par enzymothérapie des maladies lysosomales by Valayannopoulos, V., Brassier, A., Chabli, A., Caillaud, C., Lemoine, M., Odent, T., Arnoux, J.B., de Lonlay, P.

“…Récemment, des progrès considérables ont été réalisés dans le domaine des maladies lysosomales. Dans le passé aucun traitement spécifique n’était disponible…”
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Maladies héréditaires du métabolisme : signes anténatals et diagnostic biologique by Brassier, A., Ottolenghi, C., Boddaert, N., Sonigo, P., Attié-Bitach, T., Millischer-Bellaiche, A.-E., Baujat, G., Cormier-Daire, V., Valayannopoulos, V., Seta, N., Piraud, M., Chadefaux-Vekemans, B., Vianey-Saban, C., Froissart, R., de Lonlay, P.

“…Les maladies héréditaires du métabolisme résultent d’un déficit impliqué dans l’une des nombreuses voies métaboliques, entraînant l’absence d’un composé situé…”
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A Retrospective Multicentric Study of 34 Patients with Niemann–Pick Type C Disease and Early Liver Involvement in France by Gardin, Antoine, Mussini, Charlotte, Héron, Bénédicte, Schiff, Manuel, Brassier, Anaïs, Dobbelaere, Dries, Broué, Pierre, Sevin, Caroline, Vanier, Marie T., Habes, Dalila, Jacquemin, Emmanuel, Gonzales, Emmanuel

“…To describe the clinical features and course of liver involvement in a cohort of patients with Niemann-Pick type C disease (NP-C), a severe lysosomal storage…”
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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 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, Kuster, Alice, Lefranc, Jérémie, Neveu, Julien, Pitelet, Gaele, Ropars, Juliette, Rivier, François, Roubertie, Agathe, Touati, Guy, Vanhulle, Catherine, Tardieu, Emilie, Caillaud, Catherine, Froissart, Roseline, Champeaux, Murielle, Labarthe, François, Chabrol, Brigitte

“…Background Classical infantile‐onset Pompe disease (IOPD) is the most severe form of Pompe disease. Enzyme replacement therapy (ERT) has significantly…”
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Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency by Nizon, Mathilde, Boutron, Audrey, Boddaert, Nathalie, Slama, Abdelhamid, Delpech, Hélène, Sardet, Claude, Brassier, Anaïs, Habarou, Florence, Delahodde, Agnès, Correia, Isabelle, Ottolenghi, Chris, de Lonlay, Pascale

“…Lipoic acid metabolism defects are new metabolic disorders that cause neurological, cardiomuscular or pulmonary impairment. We report on a patient that…”
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Three-Country Snapshot of Ornithine Transcarbamylase Deficiency by Seker Yilmaz, Berna, Baruteau, Julien, Arslan, Nur, Aydin, Halil Ibrahim, Barth, Magalie, Bozaci, Ayse Ergul, Brassier, Anais, Canda, Ebru, Cano, Aline, Chronopoulou, Efstathia, Connolly, Grainne M, Damaj, Lena, Dawson, Charlotte, Dobbelaere, Dries, Douillard, Claire, Eminoglu, Fatma Tuba, Erdol, Sahin, Ersoy, Melike, Fang, Sherry, Feillet, François, Gokcay, Gulden, Goksoy, Emine, Gorce, Magali, Inci, Asli, Kadioglu, Banu, Kardas, Fatih, Kasapkara, Cigdem Seher, Kilic Yildirim, Gonca, Kor, Deniz, Kose, Melis, Marelli, Cecilia, Mundy, Helen, O'Sullivan, Siobhan, Ozturk Hismi, Burcu, Ramachandran, Radha, Roubertie, Agathe, Sanlilar, Mehtap, Schiff, Manuel, Sreekantam, Srividya, Stepien, Karolina M, Uzun Unal, Ozlem, Yildiz, Yilmaz, Zubarioglu, Tanyel, Gissen, Paul

“…X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to…”
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Metabolic phenotyping of mucopolysaccharidoses using untargeted liquid chromatography ion mobility mass spectrometry-based strategy by Tebani, Abdellah, Abily-Donval, Lenaig, Schmitz-Afonso, Isabelle, Heron, Benedicte, Piraud, Monique, Ausseil, Jérome, Zerimech, Farid, Brassier, Anais, De Lonlay, Pascale, Levade, Thierry, Marrett, Stéphane, Afonso, Carlos, Bekri, Soumeya

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