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المؤلفون: A, Garcia-Cazorla, J M, Saudubray
المصدر: Revista de neurologia. 66(s02)
مصطلحات موضوعية: Humans, Nervous System Diseases, Child, Metabolism, Inborn Errors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::2b4e7b769d10d24e1fff9d717924649b
https://pubmed.ncbi.nlm.nih.gov/29876911 -
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المؤلفون: Manuèle Miné, P. de Lonlay, C. Marsac, Christine Barnerias, Michèle Brivet, J.-M. Saudubray, A. Boutron, A. Imbard, C. Vequaud, H. Ogier de Baulny, Mokhtar Zater
المصدر: Molecular Genetics and Metabolism. 104:507-516
مصطلحات موضوعية: Male, Adolescent, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Nonsense mutation, Gene Dosage, Pyruvate Dehydrogenase Complex, Biology, medicine.disease_cause, Biochemistry, Gene dosage, Frameshift mutation, Endocrinology, INDEL Mutation, Catalytic Domain, Genetics, medicine, Humans, Missense mutation, Pyruvate Dehydrogenase (Lipoamide), Child, Pyruvate Dehydrogenase Complex Deficiency Disease, Molecular Biology, Gene, Cells, Cultured, Mutation, Base Sequence, Infant, Newborn, Infant, Hydrogen Bonding, Sequence Analysis, DNA, Fibroblasts, Pyruvate dehydrogenase complex, Molecular biology, Amino Acid Substitution, Child, Preschool, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a72062adf0bcbfa0ed67e5fed95b819
https://doi.org/10.1016/j .ymgme.2011.08.008 -
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المؤلفون: T. Billette de Villemeur, Odile Rigal, François Feillet, Arnold Munnich, Delphine Lamireau, Nathalie Guffon, Michèle Brivet, P. de Lonlay, Aline Cano, Daniel Rabier, J. M. Saudubray, H. Ogier de Baulny, François Labarthe, Cécile Acquaviva, Dries Dobbelaere, A. Boutron, Christine Vianey-Saban
المصدر: Molecular Genetics and Metabolism. 103:341-348
مصطلحات موضوعية: Male, DNA, Complementary, Mitochondrial Diseases, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Lipid Metabolism Disorders, Haploinsufficiency, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein, medicine.disease_cause, Biochemistry, Frameshift mutation, Cohort Studies, Mitochondrial Proteins, Endocrinology, Multienzyme Complexes, Complementary DNA, Genetics, medicine, Humans, Molecular Biology, Gene, Mutation, Base Sequence, biology, Mitochondrial Trifunctional Protein, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, DNA, medicine.disease, Molecular biology, Mitochondrial Trifunctional Protein, beta Subunit, biology.protein, Female, France, Mitochondrial Trifunctional Protein, alpha Subunit, HADHB
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4da71f6f994760fa225dcea19bfffb1e
https://doi.org/10.1016/j .ymgme.2011.04.006 -
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المؤلفون: J M Saudubray, F Sedel
المصدر: Annales d'Endocrinologie. 70:14-24
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Respiratory chain, Physiology, General Medicine, Biology, Peroxisome, Endocrinology, Intolerances, Internal medicine, Urea cycle, Failure to thrive, medicine, Ketone bodies, Glycolysis, medicine.symptom, Beta oxidation
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المؤلفون: J.-M. Saudubray, David Cohen, Olivier Lyon-Caen, J.-C. Turpin, N. Baumann, Frédéric Sedel
المصدر: Journal of Inherited Metabolic Disease. 30:631-641
مصطلحات موضوعية: Succinic semialdehyde dehydrogenase deficiency, medicine.medical_specialty, Catatonia, business.industry, Disease, medicine.disease, Cerebrotendinous Xanthomatosis, Personality changes, Genetics, medicine, Adrenoleukodystrophy, Family history, Psychiatry, business, Genetics (clinical), Psychopathology
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المؤلفون: K. Mention, J. C. Souberbielle, Vassili Valayannopoulos, Eliane Depondt, P. de Lonlay, Daniel Rabier, J. M. Saudubray, M. Assoun, Philippe Jouvet, H. Ogier de Baulny, Guy Touati
المصدر: Journal of Inherited Metabolic Disease. 29:288-298
مصطلحات موضوعية: Male, medicine.medical_specialty, Chemistry, Pharmaceutical, Urinary system, Cardiomyopathy, Gastroenterology, Eating, Enteral Nutrition, Valine, Internal medicine, Diet, Protein-Restricted, Genetics, medicine, Humans, Lactic Acid, Carnitine, Amino Acids, Child, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), Chemistry, Body Weight, Albumin, medicine.disease, Body Height, Hospitalization, Nutrition Assessment, Treatment Outcome, Parenteral nutrition, Endocrinology, Child, Preschool, Dietary Supplements, Lean body mass, Female, Dietary Proteins, Propionates, Isoleucine, Follow-Up Studies, Methylmalonic Acid, medicine.drug
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المؤلفون: Francis Jaubert, Irina Giurgea, P. de Lonlay, Francis Brunelle, J-M. Saudubray, Claire Nihoul-Fékété, M-J. Ribeiro, Guy Touati, C. Bellanné-Chantelot, Nathalie Boddaert, J.-J. Robert
المصدر: Archives de Pédiatrie. 12:1628-1635
مصطلحات موضوعية: Pathology, medicine.medical_specialty, biology, business.industry, medicine.medical_treatment, Hypoglycemia, medicine.disease, ABCC8, Pediatrics, Perinatology and Child Health, Pancreatectomy, Hyperinsulinemia, medicine, biology.protein, Diazoxide, Congenital hyperinsulinism, Sulfonylurea receptor, Allele, business, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e7455787dde8fd4f785af22a9b3fc45e
https://doi.org/10.1016/j .arcped.2005.07.016 -
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المؤلفون: H. Ogier de Baulny, Guy Touati, J.-F. Benoist, Odile Rigal, Daniel Rabier, J. M. Saudubray
المصدر: Journal of Inherited Metabolic Disease. 28:415-423
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Intellectual development, Methylmalonic acid, chemistry.chemical_compound, Quality of life, Genetics, Humans, Medicine, Survival rate, Genetics (clinical), Toxins, Biological, Therapeutic strategy, Nutritional Support, business.industry, Infant, Newborn, Infant, Nutritional status, Long-Term Care, Treatment Outcome, Methylmalonic aciduria, chemistry, Child, Preschool, Propionates, business, Neurological impairment, Metabolism, Inborn Errors, Methylmalonic Acid
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المؤلفون: Francis Brunelle, J. M. Saudubray, Jacques Rahier, Célia Crétolle, F Sauvat, Claire Nihoul-Fékété, P. de Lonlay
المصدر: Archives de Pédiatrie. 12:258-263
مصطلحات موضوعية: medicine.medical_specialty, business.industry, medicine.medical_treatment, Hypoglycemia, medicine.disease, Surgery, Partial Pancreatectomy, Lesion, Diabetes mellitus, Pediatrics, Perinatology and Child Health, Pancreatectomy, Congenital hyperinsulinism, Hyperinsulinemia, Medicine, medicine.symptom, business, Hyperinsulinism
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9ece4736818d1741b9ca44f432fbd7dc
https://doi.org/10.1016/j .arcped.2004.09.017 -
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المؤلفون: C. Pelatan, M Besnard, J.P. Cézard, C Faure, P. de Lonlay, J. M. Saudubray, M. Zentilin Boyer, J. Navarro, JP Hugot, Hélène Ogier, Nathalie Seta
المصدر: Archives de Pédiatrie. 10:590-595
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Growth retardation, business.industry, Pediatrics, Perinatology and Child Health, Carbohydrate-deficient glycoprotein syndrome, medicine, business
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