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1. L'apraxie oculomotrice
by Doummar, Diane and Rodriguez, Diana and Burglen, Lydie and De Villemeur, Thierry Billette
Medecine Therapeutique Pediatrie, ISSN 1286-5494, 03/2011, Volume 14, Issue 2, pp. 161 - 167
Oculomotor apraxia | Cogan's disease | Joubert's syndrome | Molar tooth sign
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2. Gaucher disease
by Stirnemann, Jérôme and de Villemeur, Thierry Billette and Heraoui, Djazia and Belmatoug, Nadia and Comité d'évaluation du traitement de la maladie de Gaucher
La Revue du praticien, ISSN 0035-2640, 02/2011, Volume 61, Issue 2, p. 165
Prognosis | Humans | Gaucher Disease - physiopathology | Gaucher Disease - classification | Gaucher Disease - therapy | Gaucher Disease - diagnosis
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3. Full Text Adequacy of care management of patients with polyhandicap in the French health system: A study of 782 patients
by Rousseau, Marie-Christine and De Villemeur, Thierry Billette and Khaldi-Cherif, Sherezad and Brisse, Catherine and Felce, Agnès and Baumstarck, Karine and Auquier, Pascal and French Polyhandicap Grp and French Polyhandicap Group and on behalf of the French Polyhandicap Group
PLoS ONE, ISSN 1932-6203, 07/2018, Volume 13, Issue 7, p. e0199986
Background The aims of this study were 1) to describe the health profiles and care management of poly-handicapped patients according to 2 modalities,... 
MULTIDISCIPLINARY SCIENCES | CHILDREN | Patient Care Management - statistics & numerical data | Cross-Sectional Studies | Comorbidity | Humans | Male | Disabled Persons - psychology | Disabled Persons - rehabilitation | Adult | Female | Patient Care Management - standards | Rehabilitation Centers - statistics & numerical data | Program Evaluation | France | Child | Disabled persons | Health care industry | Care and treatment | Health aspects | Analysis | Health care | Pediatrics | Medical technology | Health | Health services | Families & family life | Management | Patients | Quality of life | Disability | Brain research | Hospitals | Adequacy | Education | Data collection | Adults | Rehabilitation | Supervision | Life Sciences | Santé publique et épidémiologie
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4. Full Text Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses
by Maincent, Kim and Héron, Bénédicte and Héron, Bénédicte and Billette De Villemeur, Thierry and Billette de Villemeur, Thierry and Mayer, Michèle and Mayer, Michèle
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 11/2018, Volume 13, Issue 1, pp. 209 - 7
Background: Carpal tunnel syndrome (CTS) is a common complication of the mucopolysaccharidoses. In severe or attenuated mucopolysaccharidoses patients,... 
Hurler-Scheie | Nerve conduction study | Carpal tunnel syndrome | Hunter | Mucopolysaccharidoses | Hurler | Median nerve compression | Electroneurography | MEDICINE, RESEARCH & EXPERIMENTAL | DISORDERS | CARPAL-TUNNEL-SYNDROME | II HUNTER-SYNDROME | THERAPY | GENETICS & HEREDITY | ONSET | Complications and side effects | Neurology | Usage | Mucopolysaccharidosis | Diagnosis | Research | Pediatric research | Risk factors | Enzymes | Compression | Transplants & implants | Complications | Births | Quality of life | Latency | Wrist | Nerve conduction | Median nerve | Children | Elbow | Age
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5. Comment la loi Leonetti s'applique-t-elle à l'enfant polyhandicapé?
by De Villemeur, Thierry Billette and Brisse, Catherine and Afenjar, Alexandra and Isapof, Arnaud and Humbertclaude, Eric and Mathieu, Sophie
Medecine Therapeutique Pediatrie, ISSN 1286-5494, 01/2012, Volume 15, Issue 1, pp. 34 - 37
End-of-life | Palliative care | Polyhandicap | Child | Profound Intellectual and Multiple Disabilities (PIMD)
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6. Full Text Simulations of Valproate Doses Based on an External Evaluation of Pediatric Population Pharmacokinetic Models
by Tauzin, Manon and Tréluyer, Jean‐Marc and Nabbout, Rima and Billette de Villemeur, Thierry and Desguerre, Isabelle and Aboura, Radia and Gana, Ines and Zheng, Yi and Benaboud, Sihem and Bouazza, Naim and Chenevier‐Gobeaux, Camille and Freihuber, Cécile and Hirt, Déborah
The Journal of Clinical Pharmacology, ISSN 0091-2700, 03/2019, Volume 59, Issue 3, pp. 406 - 417
Valproate is an old‐generation antiepileptic drug often used in children. The pharmacokinetics of valproate are noteworthy for a large and difficult to predict... 
valproate | neurology | pediatrics | population pharmacokinetics | STEADY-STATE PHARMACOKINETICS | CLEARANCE | PROTEIN-BINDING | CHILDREN | SERUM CONCENTRATIONS | POLYMORPHISMS | PHARMACOLOGY & PHARMACY | EPILEPSY | ANTIEPILEPTIC DRUGS | ACID PHARMACOKINETICS | AGE | Dosing | Pediatrics | Evaluation | Computer simulation | Epilepsy | Performance prediction | Pharmacology | Valproic acid | Antiepileptic agents | Patients | Weight | Proteins | Prediction models | Population | Mathematical models | Children | Pharmacokinetics | Bayesian analysis | Drug dosages
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7. Full Text Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome
by Hainque, Elodie and Meneret, Aurélie and Gras, Domitille and Atencio, Mariana and Luton, Marie-Pierre and Barbier, Magali and De Saint Martin, Anne and Billette de Villemeur, Thierry and Ottolenghi, Chris and Roze, Emmanuel and Mochel, Fanny
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 11/2019, p. jnnp-2019-321694
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8. Full Text KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP
by Kuchenbuch, Mathieu and Barcia, Giulia and Chemaly, Nicole and Carme, Emilie and Roubertie, Agathe and Gibaud, Marc and Van Bogaert, Patrick and de Saint Martin, Anne and Hirsch, Edouard and Dubois, Fanny and Sarret, Catherine and Nguyen The Tich, Sylvie and Laroche, Cecile and des Portes, Vincent and Billette de Villemeur, Thierry and Barthez, Marie-Anne and Auvin, Stéphane and Bahi-Buisson, Nadia and Desguerre, Isabelle and Kaminska, Anna and Benquet, Pascal and Nabbout, Rima
Brain, ISSN 0006-8950, 10/2019, Volume 142, Issue 10, pp. 2996 - 3008
Data on KCNT1 epilepsy of infancy with migrating focal seizures are heterogeneous and incomplete. Kuchenbuch et al. refine the syndrome phenotype, showing a... 
Life Sciences | Bioengineering
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9. Full Text Effect of velaglucerase alfa enzyme replacement therapy on red blood cell properties in Gaucher disease
by Franco, Melanie and Reihani, Nelly and Marin, Mickael and De Person, Marine and Billette de Villemeur, Thierry and Rose, Christian and Colin, Yves and Moussa, Fathi and Belmatoug, Nadia and Le Van Kim, Caroline
American Journal of Hematology, ISSN 0361-8609, 09/2017, Volume 92, Issue 9, pp. E561 - E563
HEMATOLOGY | Recombinant Proteins - therapeutic use | Enzyme Replacement Therapy | Chemokines, CC - blood | Humans | Middle Aged | Child, Preschool | Male | Gaucher Disease - blood | Erythrocyte Membrane - drug effects | Psychosine - analogs & derivatives | Young Adult | Glucosylceramidase - therapeutic use | Adolescent | Membrane Lipids - analysis | Adult | Female | Gaucher Disease - physiopathology | Erythrocyte Membrane - chemistry | Psychosine - blood | Child | Erythrocyte Deformability - drug effects | Hexosaminidases - blood | Gaucher Disease - drug therapy | Enzymes | Biopharmaceutics
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10. Full Text Optimization of ultra-high pressure liquid chromatography – tandem mass spectrometry determination in plasma and red blood cells of four sphingolipids and their evaluation as biomarker candidates of Gaucher's disease
by Chipeaux, Caroline and de Person, Marine and Burguet, Nathalie and Billette de Villemeur, Thierry and Rose, Christian and Belmatoug, Nadia and Héron, Sylvie and Le Van Kim, Caroline and Franco, Mélanie and Moussa, Fathi
Journal of Chromatography A, ISSN 0021-9673, 11/2017, Volume 1525, pp. 116 - 125
While important advances have been recently achieved in the optimization of lipid classes’ separation, information on the specific determination of medium... 
Red blood cell | UHPLC–MS/MS | Sphingolipids | Gaucher disease | LIPIDOMICS | LC-MS/MS | CHEMISTRY, ANALYTICAL | GLUCOSYLSPHINGOSINE | UHPLC-MS/MS | BIOCHEMICAL RESEARCH METHODS | Lipids | Blood pressure | Mass spectrometry | Analysis | High performance liquid chromatography
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11. Full Text Cover Image, Volume 39, Issue 1
by Marsh, Ashley P. L and Edwards, Timothy J and Galea, Charles and Cooper, Helen M and Engle, Elizabeth C and Jamuar, Saumya S and Méneret, Aurélie and Moutard, Marie-Laure and Nava, Caroline and Rastetter, Agnès and Robinson, Gail and Rouleau, Guy and Roze, Emmanuel and Spencer-Smith, Megan and Trouillard, Oriane and Billette de Villemeur, Thierry and Walsh, Christopher A and Yu, Timothy W and Heron, Delphine and Sherr, Elliott H and Richards, Linda J and Depienne, Christel and Leventer, Richard J and Lockhart, Paul J and IRC5 Consortium
Human Mutation, ISSN 1059-7794, 01/2018, Volume 39, Issue 1, pp. i - i
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12. Full Text An Unsuspected Dyserythropoiesis in Gaucher Disease
by Reihani, Niloofar and Arlet, Jean-Benoît and Billette de Villemeur, Thierry and Belmatoug, Nadia and Colin, Yves and Hermine, Olivier and Le Van Kim, Caroline and Franco, Mélanie
Blood, ISSN 0006-4971, 12/2014, Volume 124, Issue 21, pp. 1344 - 1344
Abstract Introduction: Gaucher disease (GD) is a lysosomal storage disorder, impairing glucosylceramide catabolism. GlcCer-laden macrophages transform into... 
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13. Full Text Optimization of ultra-high pressure liquid chromatography – tandem mass spectrometry determination in plasma and red blood cells of four sphingolipids and their evaluation as biomarker candidates of Gaucher’s disease
by Chipeaux, Caroline and de Person, Marine and Burguet, Nathalie and Billette de Villemeur, Thierry and Rose, Christian and Belmatoug, Nadia and Héron, Sylvie and Le Van Kim, Caroline and Franco, Mélanie and Moussa, Fathi
Journal of Chromatography A, ISSN 0021-9673, 11/2017, Volume 1525, pp. 116 - 125
While important advances have been recently achieved in the optimization of lipid classes’ separation, information on the specific determination of medium... 
Red blood cell | UHPLC–MS/MS | Sphingolipids | Gaucher disease
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14. Full Text De novo mutations in KIF1A in 2 patients with congenital ataxia
by Afenjar, Alexandra and Billette de Villemeur, Thierry and Mignot, Cyril and Guet, Agnes and Keren, Boris and Valence, Stephanie and Garel, Catherine and Burglen, Lydie
European Journal of Paediatric Neurology, ISSN 1090-3798, 2017, Volume 21, pp. e62 - e62
Pediatrics | Neurology | Genetic aspects | Genetic disorders
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15. Full Text DCCmutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome
by Marsh, Ashley P. L and Edwards, Timothy J and Galea, Charles and Cooper, Helen M and Engle, Elizabeth C and Jamuar, Saumya S and Méneret, Aurélie and Moutard, Marie-Laure and Nava, Caroline and Rastetter, Agnès and Robinson, Gail and Rouleau, Guy and Roze, Emmanuel and Spencer-Smith, Megan and Trouillard, Oriane and Billette de Villemeur, Thierry and Walsh, Christopher A and Yu, Timothy W and Heron, Delphine and Sherr, Elliott H and Richards, Linda J and Depienne, Christel and Leventer, Richard J and Lockhart, Paul J and IRC5 Consortium
Human Mutation, ISSN 1059-7794, 01/2018, Volume 39, Issue 1, pp. 23 - 39
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16. Full Text Effect of velaglucerase alfa enzyme replacement therapy on red blood cell properties in Gaucher disease
: FRANCO et al
by Franco, Melanie and Reihani, Nelly and Marin, Mickael and De Person, Marine and Billette de Villemeur, Thierry and Rose, Christian and Colin, Yves and Moussa, Fathi and Belmatoug, Nadia and Le Van Kim, Caroline
American Journal of Hematology, ISSN 0361-8609, 09/2017, Volume 92, Issue 9, pp. E561 - E563
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17. Full Text Non progressive congenital ataxia or early onset slowly progressive ataxia? Identification of novel compound heterozygous variants in MRE11A (ataxia telangiectasia like disorder) in one patient confirms the clinical utility of exome sequencing
by Valence, Stéphanie and Billette de Villemeur, Thierry and Stoppa Lyonnet, Dominique and Fievet, Alice and Rodriguez, Diana and Burglen, Lydie
European Journal of Paediatric Neurology, ISSN 1090-3798, 2017, Volume 21, pp. e57 - e58
Pediatrics | Neurology | Telangiectasis | Genetic disorders
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18. Full Text A review of gaucher disease pathophysiology, clinical presentation and treatments
by Stirnemann, Jér Ôme and Belmatoug, Nadia and Camou, Fabrice and Serratrice, Christine and Froissart, Roseline and Caillaud, Catherine and Levade, Thierry and Astudillo, Leonardo and Serratrice, Jacques and Brassier, Anaïs and Rose, Christian and De Villemeur, Thierry Billette and Berger, Marc G
International Journal of Molecular Sciences, ISSN 1661-6596, 02/2017, Volume 18, Issue 2, pp. 441 - 441
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which... 
enzyme replacement therapy | GBA1 gene | lysosomal storage disease | biomarkers | BIOCHEMISTRY & MOLECULAR BIOLOGY | BONE-MARROW | LYSOSOMAL STORAGE | ALPHA-SYNUCLEIN | GLYCOSPHINGOLIPID STORAGE DISORDERS | CHEMISTRY, MULTIDISCIPLINARY | glucocerebrosidase | GLUCOCEREBROSIDASE GENE | Gaucher disease | IN-VITRO MODEL | substrate reduction therapy | OF-THE-LITERATURE | PARKINSONS-DISEASE | Monitoring, Physiologic | Prognosis | Metabolic Networks and Pathways | Models, Biological | Humans | Gaucher Disease - epidemiology | Gaucher Disease - physiopathology | Gaucher Disease - therapy | Gaucher Disease - diagnosis | Enzymes | Bone lesions | Mutation | Life Sciences | Hematology | Human health and pathology
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19. Full Text Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
by Crow, Y.J and Chase, D.S and Schmidt, J.L and Szynkiewicz, M and Forte, G.M.A and Gornall, H.L and Oojageer, A and Anderson, B and Pizzino, A and Helman, G and Abdel-Hamid, M.S and Abdel-Salam, G.M and Ackroyd, S and Aeby, A and Agosta, G and Albin, C and Allon-Shalev, S and Arellano, M and Ariaudo, G and Aswani, V and Babul-Hirji, R and Baildam, E.M and Bahi-Buisson, N and Bailey, K.M and Barnerias, C and Barth, M and Battini, R and Beresford, M.W and Bernard, G and Bianchi, M and de Villemeur, T.B and Blair, E.M and Bloom, M and Burlina, A.B and Carpanelli, M.L and Carvalho, D.R and Castro-Gago, M and Cavallini, A and Cereda, C and Chandler, K.E and Chitayat, D.A and Collins, A.E and Corcoles, C.S and Cordeiro, N.J.V and Crichiutti, G and Dabydeen, L and Dale, R.C and D'Arrigo, S and De Goede, C.G.E.L and de Laet, C and De Waele, L.M.H and Denzler, I and Desguerre, I and Devriendt, K and Di Rocco, M and Fahey, M.C and Fazzi, E and Ferrie, C.D and Figueiredo, A and Gener, B and Goizet, C and Gowrinathan, N.R and Gowrishankar, K and Hanrahan, D and Isidor, B and Kara, L and Khan, N and King, M.D and Kirk, E.P and Kumar, R and Lagae, L and Lanieu, P and Lauffer, H and Laugel, V and La Piana, R and Lim, M.J and Lin, J.P.S.M and Linnankivi, T and Mackay, M.T and Marom, D.R and Lourenco, C.M and McKee, S.A and Moroni, I and Morton, J.E.V and Moutard, M.L and Murray, K and Nabbout, R and Nampoothiri, S and Nunez-Enamorado, N and Oades, P.J and Olivieri, I and Ostergaard, J.R and Perez-Duenas, B and Prendiville, J.S and Ramesh, V and Rasmussen, M and Regal, L and Ricci, F and Rio, M and Knaap, M and ...
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2015, Volume 167, Issue 2, pp. 296 - 312
Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We... 
spastic paraparesis | type I interferon | bilateral striatal necrosis | interferon signature | Aicardi–Goutières syndrome | Interferon signature | Bilateral striatal necrosis | Spastic paraparesis | Type I interferon | Aicardi-Goutières syndrome | SYSTEMIC-LUPUS-ERYTHEMATOSUS | BASAL GANGLIA | ENCEPHALOPATHY | AICARDI-GOUTIERES-SYNDROME | INTERFERON-ALPHA | GENE | Aicardi-Goutieres syndrome | DNA EXONUCLEASE TREX1 | GENETICS & HEREDITY | CLASSIFICATION-SYSTEM | VASCULOPATHY | CALCIFICATIONS | Interferons - cerebrospinal fluid | Genetic Association Studies | Adenosine Deaminase - genetics | Humans | SAM Domain and HD Domain-Containing Protein 1 | Genotype | Monomeric GTP-Binding Proteins - genetics | Phosphoproteins - genetics | Pterins - cerebrospinal fluid | Interferon-Induced Helicase, IFIH1 | DEAD-box RNA Helicases - genetics | Phenotype | Interferons - blood | Autoimmune Diseases of the Nervous System - genetics | Nervous System Malformations - diagnosis | Exodeoxyribonucleases - genetics | Mutation | Nervous System Malformations - genetics | Autoimmune Diseases of the Nervous System - diagnosis | Ribonuclease H - genetics | Glaucoma | Mortality | Skin diseases | Genetic aspects | Hypothyroidism | Biological response modifiers
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