المؤلفون: Jennifer L. Cohen, Jessica Burfield, Karen Valdez-Gonzalez, Angela Samuels, Arianna K. Stefanatos, Marc Yudkoff, Helio Pedro, Can Ficicioglu

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)

مصطلحات موضوعية: Wolman disease, Enzyme replacement therapy, Lysosomal acid lipase deficiency, Diet, Adrenal insufficiency, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1129-y; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/322acde15e3d4f02a484934639284c73

المؤلفون: Maria Schwab, Siddharth Gupta, Karen Valdez-Gonzalez, Eric Segal

المصدر: European journal of medical genetics. 63(9)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Microcephaly, medicine.medical_treatment, Developmental Disabilities, Status epilepticus, Neonatal onset, Genetics, medicine, Cannabidiol, Humans, Global developmental delay, Genetics (clinical), Epilepsy, business.industry, Homozygote, Brain, Infant, RNA-Binding Proteins, General Medicine, medicine.disease, Brain Waves, Hypoplasia, Neoplasm Proteins, Burst suppression, Codon, Nonsense, Failure to thrive, Cytokines, Anticonvulsants, Female, medicine.symptom, business, Diet, Ketogenic, Ketogenic diet

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e09f7cf9fcc4f57f69db0cdbde71578
https://pubmed.ncbi.nlm.nih.gov/32531460

المؤلفون: Stephen J. Thompson, Sarah Parisotto, Helio Pedro, Karen Valdez-Gonzalez, Felicia Gliksman, Eric Segal, Evan Fertig, Jomard Sabri

المصدر: Pediatric Neurology. 64:66-71

مصطلحات موضوعية: Male, 0301 basic medicine, Drug Resistant Epilepsy, medicine.medical_specialty, Adolescent, Microarray, Biology, Bioinformatics, DNA sequencing, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Developmental Neuroscience, Dravet syndrome, Internal medicine, medicine, Clinical endpoint, Humans, Genetic Testing, Child, Prospective cohort study, Retrospective Studies, Comparative Genomic Hybridization, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, Microarray Analysis, medicine.disease, 030104 developmental biology, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Etiology, Female, Neurology (clinical), 030217 neurology & neurosurgery, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8612ca26de15ab839329b5abf87e944
https://doi.org/10.1016/j.pediatrneurol.2016.06.019