المؤلفون: Alberto Volpini, Malkanthi Fernando, Sidney Behringer, Elisabetta Cesaroni, Jörn Oliver Sass, Ida Cursio, Claudia Till

المصدر: Brain and Development. 42:226-230

مصطلحات موضوعية: Genetics, RNA, General Medicine, Biology, medicine.disease, Serine, 03 medical and health sciences, Exon, genomic DNA, 0302 clinical medicine, Developmental Neuroscience, Inborn error of metabolism, Pediatrics, Perinatology and Child Health, RNA splicing, medicine, Neurology (clinical), Gene, 030217 neurology & neurosurgery, Glycerate kinase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4f7f8e59313391e552f60bd9124639b1
https://doi.org/10.1016/j.braindev.2019.11.008

المؤلفون: Anne Korwitz-Reichelt, Claudia Till, Kathleen Grundke, Despina Tsortouktzidis, Jörn Oliver Sass

المصدر: Metabolic brain disease. 34(6)

مصطلحات موضوعية: 0301 basic medicine, Models, Molecular, Genotype, Metabolite, Biochemistry, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, 0302 clinical medicine, Humans, Gene, chemistry.chemical_classification, Serine protease, biology, Valproic Acid, HEK 293 cells, Metabolism, Amino acid, 030104 developmental biology, HEK293 Cells, chemistry, Cell culture, APEH, biology.protein, lipids (amino acids, peptides, and proteins), Anticonvulsants, Neurology (clinical), 030217 neurology & neurosurgery, Peptide Hydrolases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edac9378404e502b7326de99109b584b
https://pubmed.ncbi.nlm.nih.gov/31363986

المؤلفون: Malkanthi Fernando, Jörn Oliver Sass, PE Fitzsimons, Claudia Till, Ellen Crushell, Attia Kalim, Philip Mayne

المصدر: Brain and Development. 39:536-538

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Arginine, Biology, Serine, Excretion, 03 medical and health sciences, Exon, 0302 clinical medicine, Developmental Neuroscience, Internal medicine, medicine, Humans, Global developmental delay, Family Health, Kinase, Catabolism, Phosphotransferases, General Medicine, Magnetic Resonance Imaging, Phosphotransferases (Alcohol Group Acceptor), 030104 developmental biology, Endocrinology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), 030217 neurology & neurosurgery, Carbohydrate Metabolism, Inborn Errors, Urine organic acids

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42b01aafe4dc5422f3069a52e7608249
https://doi.org/10.1016/j.braindev.2017.01.005

المؤلفون: Aynur Damli-Huber, Ivailo Tournev, Hilary Vallance, Bjørn Magne Jåtun, Markus Rauchenzauner, Sema Kalkan Uçar, Jörn Oliver Sass, Daniel Beumer, Albena Jordanova, Majid Alfadhel, Karmen Bilić, Clara D.M. van Karnebeek, Maja Tarailo-Graovac, Mahmut Çoker, Claudia Till, Fowzan S. Alkuraya, Ivo Barić, Nuria Garcia Segarra, Michael T. Geraghty, Corinne Gemperle-Britschgi, Bryan Sayson, Melanie Walter, Lin-Hua Zhang, Nisha Patel, Cynthia Xin Ye, Eissa Faqeih, Merten Kriewitz

المساهمون: University of Zurich, Sass, Jörn Oliver, Other departments

المصدر: Molecular genetics and metabolism
Molecular genetics and metabolism, 119(1-2), 44-49. Academic Press Inc.

مصطلحات موضوعية: Male, Pyroglutamate Hydrolase, 0301 basic medicine, Hemolytic anemia, Heterozygote, 1303 Biochemistry, Adolescent, Endocrinology, Diabetes and Metabolism, 610 Medicine & health, Biology, medicine.disease_cause, Biochemistry, Glutathione Synthase, 03 medical and health sciences, Endocrinology, 1311 Genetics, Genotype, Genetics, medicine, 1312 Molecular Biology, Humans, Allele, Child, Amino Acid Metabolism, Inborn Errors, Molecular Biology, Alleles, Mutation, Homozygote, Infant, Heterozygote advantage, medicine.disease, Glutathione synthetase deficiency, Glutathione, Glutathione synthetase, Pyrrolidonecarboxylic Acid, 1310 Endocrinology, 2712 Endocrinology, Diabetes and Metabolism, 030104 developmental biology, Inborn error of metabolism, 10036 Medical Clinic, Child, Preschool, Female, Human medicine

وصف الملف: SASJO-Unravelling5Oxo.pdf - application/pdf; pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c635284576762b853696d932ec9a17e4
https://doi.org/10.5167/uzh-130118

المؤلفون: Lawrence Greed, Raina Yamamoto, Jörn Oliver Sass, Shanti Balasubramaniam, Karmen Bilić, David Meili, Annegret Flier, Barry Lewis, Claudia Till

المصدر: JIMD Reports ISBN: 9783662532775

مصطلحات موضوعية: Monocarboxylate transporter, Proband, medicine.medical_specialty, Mutation, biology, business.industry, Hypoglycemia, medicine.disease, medicine.disease_cause, Article, Ketoacidosis, Endocrinology, Monocarboxylate transporter 1, Internal medicine, medicine, biology.protein, Ketone bodies, Differential diagnosis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21a1564f2af2f2f2d15ea6c95d177cc9
https://doi.org/10.1007/8904_2015_519