المؤلفون: Maurizio Fuoti, Mara Cananzi, Giulia Paolella, Manila Candusso, Paola Francalanci, Lidia Monti, Emanuele Nicastro, Lorenzo D'Antiga, Carlo Dionisi Vici, Michele Pinon, Lorenza Matarazzo, Irene Degrassi, P. Gaio, Angelo Di Giorgio, Giusy Ranucci, Pier Luigi Calvo, Giuseppe Indolfi, Claudia Mandato, Fabio Mosca, Pietro Vajro, Maria Pia Bondioni, Maria Iascone, Maria Grazia Clemente, Federica Nuti, Marco Sciveres, Jean de Ville de Goyet, Claudia Della Corte, Marco Spada, Chiara Grimaldi, Federica Ferrari, Gabriella Nebbia, Giuseppe Maggiore, Fabio Fusaro, Daniele Serranti, Daniele Alberti, Fabiola Di Dato, Paola Roggero, Raffaele Iorio, Giovanni Boroni

المصدر: Digestive and Liver Disease. 54:40-53

مصطلحات موضوعية: Male, medicine.medical_specialty, Genetic liver disease, Alagille syndrome, Biliary atresia, Diagnosis, Inborn errors of metabolism, Jaundice, Monogenic liver disease, Newborn, Female, Gastroenterology, Humans, Infant, Infant, Newborn, Cholestasis, Evidence-Based Medicine, Infant, Newborn, Diseases, Practice Guidelines as Topic, Diseases, Disease, Liver disease, Epidemiology, medicine, Intensive care medicine, Hepatology, business.industry, medicine.disease, Etiology, Position paper, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0ce0fffe2daac98d978c30f08961776
https://doi.org/10.1016/j.dld.2021.09.011

المؤلفون: Jonas, Roy E, Kimonis, Virginia E, Morales, Augusto

المصدر: American Journal of Medical Genetics. 73(2)

مصطلحات موضوعية: Pediatric, Brain Disorders, Neurosciences, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Clinical Research, Abnormalities, Multiple, Agenesis of Corpus Callosum, Child, Preschool, Corpus Callosum, Craniofacial Abnormalities, Developmental Disabilities, Female, Genes, Recessive, Humans, Intellectual Disability, Magnetic Resonance Imaging, Male, Nerve Tissue, Nuclear Family, Pons, Syndrome, atypical corpus callosum partial agenesis, myelination disorders, developmental delay, hypotonia, inborn errors of metabolism, macrocrania, pontine hypoplasia, white matter degeneration, Genetics, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5tf516rt

المؤلفون: Femke S. Stet, Frédéric M. Vaz, Johanne H. Klinkspoor, Susan M. I. Goorden, Riekelt H. Houtkooper, Martin A. T. Vervaart, Hilary J. Vernon, Ronald J.A. Wanders, Henk van Lenthe, Willem Kulik

المساهمون: Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Diabetes & metabolism, ACS - Heart failure & arrhythmias, APH - Aging & Later Life, Laboratory for General Clinical Chemistry, APH - Methodology, Amsterdam Reproduction & Development (AR&D), APH - Personalized Medicine

المصدر: Journal of inherited metabolic disease, 45(1), 29-37. Springer Netherlands

مصطلحات موضوعية: Adult, Male, Functional assay, Adolescent, Phospholipid, Cardiomyopathy, Tafazzin, inborn errors of metabolism, Neutropenia, Young Adult, chemistry.chemical_compound, Genetics, medicine, Cardiolipin, Humans, Lymphocytes, Child, Genetics (clinical), mass spectrometry, dried blood spot testing, biology, Chemistry, Monolysocardiolipin, Reproducibility of Results, biomarkers, cardiolipins, Barth syndrome, medicine.disease, Molecular biology, Child, Preschool, Linear Models, biology.protein, Female, Lysophospholipids

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d2bd8bd17b69fe1edd059a260cc8b45
https://doi.org/10.1002/jimd.12425

المؤلفون: Meriah S. Schoen, Usha Ramakrishnan, Jessica A. Alvarez, Thomas R. Ziegler, Xiangqin Cui, Rani H. Singh

المصدر: Nutrients; Volume 14; Issue 19; Pages: 4056

مصطلحات موضوعية: Adult, Nutrition and Dietetics, Phenylalanine, rare disease, phenylketonuria, diet, choline, inborn errors of metabolism, Vitamins, Nutrition Surveys, Choline, Vitamin B 12, Folic Acid, Methionine, Pregnancy, Phenylketonurias, Humans, Female, Child, Food Science

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5c54286b21c15a3cc0263b8539e8619

المؤلفون: Elise Jeannesson, Julien Levy, Stéphane Ziuly, Rosa-Maria Rodriguez-Guéant, Jean-Louis Guéant, Abderrahim Oussalah, Denis Wahl

المساهمون: Biochimie – Biologie moléculaire et Nutrition [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Défaillance Cardiovasculaire Aiguë et Chronique (DCAC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), This study was funded by FHU ARRIMAGE and the French Agence Nationale de la Recherche, PIA project, Lorraine Université d’Excellence, reference ANR-15-IDEX-04-LUE., IMPACT GEENAGE, ANR-15-IDEX-0004,LUE,Isite LUE(2015)

المصدر: American Journal of Clinical Nutrition
American Journal of Clinical Nutrition, American Society for Nutrition, 2021, 113 (5), pp.1157-1167. ⟨10.1093/ajcn/nqaa432⟩

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Vitamin, medicine.medical_specialty, Hyperhomocysteinemia, Homocysteine, Cross-sectional study, [SDV]Life Sciences [q-bio], Methylmalonic acid, Medicine (miscellaneous), thromboembolic manifestations, inborn errors of metabolism, Folic Acid Deficiency, 030204 cardiovascular system & hematology, folate, Gastroenterology, 03 medical and health sciences, chemistry.chemical_compound, Folic Acid, 0302 clinical medicine, Internal medicine, medicine, Humans, Vitamin B12, Retrospective Studies, 2. Zero hunger, Nutrition and Dietetics, business.industry, Genetic disorder, homocysteine, vitamin B12, Middle Aged, medicine.disease, cardiovascular disease risk, 3. Good health, Vitamin B 12, Malnutrition, Cross-Sectional Studies, 030104 developmental biology, chemistry, Cardiovascular Diseases, Child, Preschool, 1-carbon metabolism, Female, business, Metabolism, Inborn Errors, Methylmalonic Acid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4566f889eedf0a64e0972cf4adb769b
https://doi.org/10.1093/ajcn/nqaa432

المؤلفون: María E. Vázquez-Mosquera, Emiliano González-Vioque, Francisco Ferraz Laranjeira, Alejandro Avila-Alvarez, Ana C. Ferreira, Roi Chans, José V. Álvarez, Esmeralda Martins, Sofia Barbosa-Gouveia, María L. Couce

المصدر: Genes
Volume 12
Issue 8
Genes, Vol 12, Iss 1262, p 1262 (2021)

مصطلحات موضوعية: Male, Mitochondrial Diseases, Adolescent, HDE MTB, inborn errors of metabolism, Inborn errors of metabolism, QH426-470, Bioinformatics, Article, genetic diagnosis, Gene panel, differential diagnosis, Genetics, Humans, Medicine, Child, Gene, Genetics (clinical), business.industry, Genetic heterogeneity, Intermediary Metabolism, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, Metabolism, Phenotype, Hypoglycemia, Molecular Diagnostic Techniques, Child, Preschool, Hyperglycemia, Genetic diagnosis, Mutation, Female, Differential diagnosis, business, Haploinsufficiency, Metabolism, Inborn Errors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::982136112d6053577ee49c59125ba026

المؤلفون: Mouna Taroua, Christiane Auray-Blais, Siamak Jabbarzadeh-Tabrizi, Raphael Schiffmann, Jin-Song Shen, Taniqua S. Day, Michel Boutin

المصدر: Journal of Lipid Research, Vol 61, Iss 11, Pp 1410-1423 (2020)
J Lipid Res

مصطلحات موضوعية: 0301 basic medicine, Gene isoform, Male, storage diseases, glycolipids, Globotriaosylceramide, Mice, Transgenic, inborn errors of metabolism, QD415-436, 030204 cardiovascular system & hematology, Biology, Severity of Illness Index, Biochemistry, Glycosphingolipids, Pathogenesis, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, Endocrinology, medicine, Animals, globotriaosylsphingosine, Research Articles, globotriaosylceramide, Kidney, sphingolipids, Cell Biology, medicine.disease, Fabry's disease, Fabry disease, Molecular biology, Sphingolipid, Sensory neuron, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Phenotype, chemistry, Fabry Disease, Female, lipids (amino acids, peptides, and proteins)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f9ccce41163000aa69e5598147f4f22
http://www.sciencedirect.com/science/article/pii/S0022227520437290

المؤلفون: Alfred Lordi, Gary P. Swain, Nicole Kasica, Charles H. Vite, Eric Solon, Susan Stellar, Mark L. Kao, Jessica H. Bagel, Brittney L. Gurda

المصدر: Journal of Inherited Metabolic Disease

مصطلحات موضوعية: storage diseases, Male, medicine.medical_specialty, Pituitary gland, brain, Central nervous system, inborn errors of metabolism, Mice, 03 medical and health sciences, Pharmacokinetics, Niemann-Pick C1 Protein, Internal medicine, Genetics, medicine, Animals, Distribution (pharmacology), Genetics (clinical), 030304 developmental biology, 0303 health sciences, Niemann Pick type C, Ganglioside, CATS, Chemistry, animal model, 030305 genetics & heredity, cholesterol, Niemann-Pick Disease, Type C, Original Articles, Spinal cord, drug therapy, 2-Hydroxypropyl-beta-cyclodextrin, Disease Models, Animal, medicine.anatomical_structure, Endocrinology, Cats, Original Article, Female, Subarachnoid space

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::876bae85ee541e28ec78b27819832957
https://doi.org/10.1002/jimd.12189

المؤلفون: Aurora Pujol, Sarah C. Grünert, Leigh B. Waddell, Cecilia Jimenez-Mallebrera, Ana Töpf, Frances J. Evesson, Antonia Ribes, Carlos Ortez, Daniel McArthur, Sandra T. Cooper, Charlotte L. Alston, Delia Yubero, Georgia Sarquella, Saikat Santra, Janbernd Kirschner, Agatha Schlüter, Rita Horvath, Kyle Thompson, Nicolai Kohlschmidt, Michael Champion, Hanns Lochmüller, Robert W. Taylor, Claudia Gross, Gina L. O’Grady, Maria del Mar O’Callaghan, Efsthatia Chronopoulou, M. A. Preece, Andrés Nascimento, Majumdar Anirban, Christian Turner, Denisa Hathazi, Germaine Pierre, Frederic Tort, Nadja Mingirulli, Raquel Montero, Sergei Korenev, Angela Pyle, Jennifer Duff, Andreas Roos, Angels García-Cazorla, Rafael Artuch, Plácido Navas, Cristina Jou

المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository, Generalitat de Catalunya, Association Française contre les Myopathies, European Research Council, European Commission, Fundació La Marató de TV3, Instituto de Salud Carlos III, Medical Research Council (UK), National Institute for Health Research (UK), Wellcome Trust

المصدر: Journal of Inherited Metabolic Disease
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Mingirulli, N, Pyle, A, Hathazi, D, Alston, C L, Kohlschmidt, N, O'Grady, G, Waddell, L, Evesson, F, Cooper, S B T, Turner, C, Duff, J, Topf, A, Yubero, D, Jou, C, Nascimento, A, Ortez, C, García-Cazorla, A, Gross, C, O'Callaghan, M, Santra, S, Preece, M A, Champion, M, Korenev, S, Chronopoulou, E, Anirban, M, Pierre, G, McArthur, D, Thompson, K, Navas, P, Ribes, A, Tort, F, Schlüter, A, Pujol, A, Montero, R, Sarquella, G, Lochmüller, H, Jiménez-Mallebrera, C, Taylor, R W, Artuch, R, Kirschner, J, Grünert, S C, Roos, A & Horvath, R 2020, ' Clinical presentation and proteomic signature of patients with TANGO2 mutations ', Journal of Inherited Metabolic Disease, vol. 43, no. 2, pp. 297-308 . https://doi.org/10.1002/jimd.12156
Digital.CSIC. Repositorio Institucional del CSIC
Dipòsit Digital de la UB
Universidad de Barcelona
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: metabolic encephalomyopathy, Male, Proteomics, Mitochondrial Diseases, Fisiologia patològica, Respiratory chain, Medizin, Golgi Apparatus, TANGO2, Oxidative Phosphorylation, Rhabdomyolysis, fatty acid metabolism, Cognitive decline, Pathological physiology, health care economics and organizations, Genetics (clinical), chemistry.chemical_classification, 0303 health sciences, Muscle Weakness, Brain Diseases, Metabolic, 030305 genetics & heredity, Metabolic disorder, Fatty Acids, Homozygote, Errors congènits del metabolisme, proteomic analysis, 3. Good health, medicine.anatomical_structure, Phenotype, Lactic acidosis, Original Article, Female, education, Oxidative phosphorylation, Inborn errors of metabolism, Biology, 03 medical and health sciences, mitochondrial dysfunction, Genetics, medicine, Humans, rhabdomyolysis, 030304 developmental biology, Whole Genome Sequencing, Skeletal muscle, Infant, Original Articles, medicine.disease, Molecular biology, Enzyme, Membrane protein, chemistry, Mutation

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78b0430fb79fe65dede4704cce78c6bc
http://europepmc.org/articles/PMC7078914

المؤلفون: Anja Lisbeth Frederiksen, Diva D. De León, Matthew Lines, Henrik Thybo Christesen, Anne Benner, Yazeid Alhaidan, Klaus Brusgaard, Rebecca Sparkes

المصدر: American Journal of Medical Genetics. Part a
Benner, A, Alhaidan, Y, Lines, M A, Brusgaard, K, De Leon, D D, Sparkes, R, Frederiksen, A L & Christesen, H T 2021, ' PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only ', American Journal of Medical Genetics. Part A, vol. 185, no. 10, pp. 2959-2975 . https://doi.org/10.1002/ajmg.a.62383
Benner, A, Alhaidan, Y, Lines, M A, Brusgaard, K, De Leon, D D, Sparkes, R, Frederiksen, A L & Christesen, H T 2021, ' PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only ', American Journal of Medical Genetics, Part A, vol. 185, no. 10, pp. 2959-2975 . https://doi.org/10.1002/ajmg.a.62383

مصطلحات موضوعية: 0301 basic medicine, Male, Propionic Acidemia, next‐generation sequencing, 030105 genetics & heredity, ketotic hypoglycemia, Missense mutation, Glycogen storage disease, whole-exome sequencing, Idiopathic Ketotic Hypoglycemia, Child, Genetics (clinical), Exome sequencing, High-Throughput Nucleotide Sequencing, Pedigree, Phenotype, Child, Preschool, Female, Original Article, whole‐exome sequencing, medicine.symptom, Hepatomegaly, Adult, medicine.medical_specialty, Adolescent, Phosphorylase Kinase, Mutation, Missense, inborn errors of metabolism, Short stature, Asymptomatic, Diagnosis, Differential, 03 medical and health sciences, Young Adult, glycogen storage disease, Internal medicine, Exome Sequencing, Genetics, medicine, Humans, business.industry, Original Articles, medicine.disease, Ketotic hypoglycemia, Hypoglycemia, 030104 developmental biology, Endocrinology, next-generation sequencing, business, Asymptomatic carrier

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ab32b34e290997f431eff4eecb45ff8
https://pubmed.ncbi.nlm.nih.gov/34117828