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Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria. [electronic resource] by
- de Keyzer, Yves
- Valayannopoulos, Vassili
- Benoist, Jean-François
- Batteux, Frédéric
- Lacaille, Florence
- Hubert, Laurence
- Chrétien, Dominique
- Chadefeaux-Vekemans, Bernadette
- Niaudet, Patrick
- Touati, Guy
- Munnich, Arnold
- de Lonlay, Pascale
Producer: 20090909
In:
Pediatric research vol. 66
Availability: No items available.
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8.
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Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. [electronic resource] by
- Zeharia, Avraham
- Shaag, Avraham
- Houtkooper, Riekelt H
- Hindi, Tareq
- de Lonlay, Pascale
- Erez, Gilli
- Hubert, Laurence
- Saada, Ann
- de Keyzer, Yves
- Eshel, Gideon
- Vaz, Frédéric M
- Pines, Ophry
- Elpeleg, Orly
Producer: 20081118
In:
American journal of human genetics vol. 83
Availability: No items available.
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9.
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Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect. [electronic resource] by
- Valayannopoulos, Vassili
- Boddaert, Nathalie
- Chabli, Allel
- Barbier, Valerie
- Desguerre, Isabelle
- Philippe, Anne
- Afenjar, Alexandra
- Mazzuca, Michel
- Cheillan, David
- Munnich, Arnold
- de Keyzer, Yves
- Jakobs, Cornelis
- Salomons, Gajja S
- de Lonlay, Pascale
Producer: 20120525
In:
Journal of inherited metabolic disease vol. 35
Availability: No items available.
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10.
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TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane. [electronic resource] by
- Hanein, Sylvain
- Garcia, Mathilde
- Fares-Taie, Lucas
- Serre, Valérie
- De Keyzer, Yves
- Delaveau, Thierry
- Perrault, Isabelle
- Delphin, Nathalie
- Gerber, Sylvie
- Schmitt, Alain
- Masse, Jean-Marc
- Munnich, Arnold
- Kaplan, Josseline
- Devaux, Frédéric
- Rozet, Jean-Michel
Producer: 20130805
In:
Biochimica et biophysica acta vol. 1830
Availability: No items available.
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11.
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Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome. [electronic resource] by
- Brassier, Anaïs
- Ottolenghi, Chris
- Boutron, Audrey
- Bertrand, Anne-Marie
- Valmary-Degano, Séverine
- Cervoni, Jean-Paul
- Chrétien, Dominique
- Arnoux, Jean-Baptiste
- Hubert, Laurence
- Rabier, Daniel
- Lacaille, Florence
- de Keyzer, Yves
- Di Martino, Vincent
- de Lonlay, Pascale
Producer: 20131112
In:
Molecular genetics and metabolism vol. 109
Availability: No items available.
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12.
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Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome. [electronic resource] by
- Valayannopoulos, Vassili
- Bakouh, Naziha
- Mazzuca, Michel
- Nonnenmacher, Luc
- Hubert, Laurence
- Makaci, Fatna-Léa
- Chabli, Allel
- Salomons, Gajja S
- Mellot-Draznieks, Caroline
- Brulé, Emilie
- de Lonlay, Pascale
- Toulhoat, Hervé
- Munnich, Arnold
- Planelles, Gabrielle
- de Keyzer, Yves
Producer: 20130924
In:
Journal of inherited metabolic disease vol. 36
Availability: No items available.
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13.
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Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. [electronic resource] by
- Barth, Magalie
- Ottolenghi, Chris
- Hubert, Laurence
- Chrétien, Dominique
- Serre, Valérie
- Gobin, Stéphanie
- Romano, Stéphane
- Vassault, Anne
- Sefiani, Aziz
- Ricquier, Daniel
- Boddaert, Nathalie
- Brivet, Michèle
- de Keyzer, Yves
- Munnich, Arnold
- Duran, Marinus
- Rabier, Daniel
- Valayannopoulos, Vassili
- de Lonlay, Pascale
Producer: 20140408
In:
Journal of inherited metabolic disease vol. 33 Suppl 3
Availability: No items available.
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14.
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Clinical and biochemical heterogeneity associated with fumarase deficiency. [electronic resource] by
- Ottolenghi, Chris
- Hubert, Laurence
- Allanore, Yannick
- Brassier, Anais
- Altuzarra, Cécilia
- Mellot-Draznieks, Caroline
- Bekri, Soumeya
- Goldenberg, Alice
- Veyrieres, Severine
- Boddaert, Nathalie
- Barbier, Valérie
- Valayannopoulos, Vassili
- Slama, Abdelhamid
- Chrétien, Dominique
- Ricquier, Daniel
- Marret, Stéphane
- Frebourg, Thierry
- Rabier, Daniel
- Munnich, Arnold
- de Keyzer, Yves
- Toulhoat, Hervé
- de Lonlay, Pascale
Producer: 20140417
In:
Human mutation vol. 32
Availability: No items available.
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15.
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LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. [electronic resource] by
- Michot, Caroline
- Hubert, Laurence
- Brivet, Michèle
- De Meirleir, Linda
- Valayannopoulos, Vassili
- Müller-Felber, Wolfgang
- Venkateswaran, Ramesh
- Ogier, Hélène
- Desguerre, Isabelle
- Altuzarra, Cécilia
- Thompson, Elizabeth
- Smitka, Martin
- Huebner, Angela
- Husson, Marie
- Horvath, Rita
- Chinnery, Patrick
- Vaz, Frederic M
- Munnich, Arnold
- Elpeleg, Orly
- Delahodde, Agnès
- de Keyzer, Yves
- de Lonlay, Pascale
Producer: 20101004
In:
Human mutation vol. 31
Availability: No items available.
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16.
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Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts. [electronic resource] by
- Michot, Caroline
- Mamoune, Asmaa
- Vamecq, Joseph
- Viou, Mai Thao
- Hsieh, Lu-Sheng
- Testet, Eric
- Lainé, Jeanne
- Hubert, Laurence
- Dessein, Anne-Frédérique
- Fontaine, Monique
- Ottolenghi, Chris
- Fouillen, Laetitia
- Nadra, Karim
- Blanc, Etienne
- Bastin, Jean
- Candon, Sophie
- Pende, Mario
- Munnich, Arnold
- Smahi, Asma
- Djouadi, Fatima
- Carman, George M
- Romero, Norma
- de Keyzer, Yves
- de Lonlay, Pascale
Producer: 20140220
In:
Biochimica et biophysica acta vol. 1832
Availability: No items available.
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17.
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Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. [electronic resource] by
- Michot, Caroline
- Hubert, Laurence
- Romero, Norma B
- Gouda, Amr
- Mamoune, Asmaa
- Mathew, Suja
- Kirk, Edwin
- Viollet, Louis
- Rahman, Shamima
- Bekri, Soumeya
- Peters, Heidi
- McGill, James
- Glamuzina, Emma
- Farrar, Michelle
- von der Hagen, Maya
- Alexander, Ian E
- Kirmse, Brian
- Barth, Magalie
- Laforet, Pascal
- Benlian, Pascale
- Munnich, Arnold
- JeanPierre, Marc
- Elpeleg, Orly
- Pines, Ophry
- Delahodde, Agnès
- de Keyzer, Yves
- de Lonlay, Pascale
Producer: 20130405
In:
Journal of inherited metabolic disease vol. 35
Availability: No items available.
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