المؤلفون: Patrizia Malaspina, Concetta Capo, Sara Leo, Mattia Falconi, Luisa Rossi, Elisa Biamino, Bianca Maria Ciminelli, Federico Iacovelli, Roberta Vittorini, Serena Vesco, Marco Spada, Maria Paola Puccinelli, Francesco Porta, Giovanna Menduti

المصدر: Molecular genetics and metabolism. 124(3)

مصطلحات موضوعية: 0301 basic medicine, Succinic semialdehyde dehydrogenase deficiency, Male, Heterozygote, Protein Conformation, Endocrinology, Diabetes and Metabolism, Developmental Disabilities, Mutant, Mutation, Missense, SSADHD (succinic semialdehyde dehydrogenase deficiency), Gene mutation, medicine.disease_cause, Biochemistry, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Enzyme Stability, Genetics, medicine, Missense mutation, Humans, ALDH5A1 gene, GABA (γ-aminobutyric acid), GHB (γ-hydroxybutyric acid), SSADH, Molecular Biology, Amino Acid Metabolism, Inborn Errors, Mutation, biology, Settore BIO/11, Chemistry, Settore BIO/12, Wild type, medicine.disease, Molecular biology, Enzyme assay, Pedigree, Settore BIO/18 - Genetica, 030104 developmental biology, Child, Preschool, biology.protein, Female, Succinate-Semialdehyde Dehydrogenase, 030217 neurology & neurosurgery, Homotetramer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cfb9a5ac06b6419d3952f485adbc9d9Test
https://pubmed.ncbi.nlm.nih.gov/29895405Test

المؤلفون: Marco Spada, David Kasper, Elisa Biamino, Veronica Pagliardini, Francesco Porta, Silvana Giachero

المصدر: Italian Journal of Pediatrics

مصطلحات موضوعية: 0301 basic medicine, Genetic Markers, Male, medicine.medical_specialty, Spectrometry, Mass, Electrospray Ionization, Globotriaosylceramide, Asymptomatic, Gastroenterology, Pediatrics, Lysosomal storage disorders, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Genotype, medicine, Humans, Clinical phenotype, Child, Newborn screening, Fabry disease, Sphingolipids, Alpha-galactosidase, biology, business.industry, Research, Infant, Newborn, Perinatology and Child Health, medicine.disease, Globotriaosylsphingosine, Pediatrics, Perinatology and Child Health, Sphingolipid, Pedigree, 030104 developmental biology, Endocrinology, Phenotype, chemistry, alpha-Galactosidase, biology.protein, Disease Progression, medicine.symptom, Glycolipids, business, 030217 neurology & neurosurgery, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e591523233a3c86acbe8009047b31b5Test
http://europepmc.org/articles/PMC5209809Test