المؤلفون: Charlie Fairhurst, Norberto Guelbert, Renée Shediac, Szilard Kiss, Lenora Lehwald, Ruth Williams, Martin Blohm, Andrea West, Jessica L. Cohen-Pfeffer, Angela Schulz, John A. Lawson, Meral Topçu, Annamaria Kofler, Margie Frazier, Svetlana Mikhaylova, Emily de los Reyes, Jonathan W. Mink, Nicola Specchio, Kristen Drago, Miriam Nickel, Boris Zernikow, Heather R. Adams, Jonas Denecke, Mary Anne Leung, Katherine B. Sims, Ina von Löbbecke

مصطلحات موضوعية: Neurology (clinical), Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health

العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/86975Test

الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2017.01.034Test
https://www.openaccessrepository.it/record/86975Test

المؤلفون: Joni A. Turunen, Ruth Williams, Margie Frazier, Emily de los Reyes, Kristen Drago, Minna Laine, Sharon King, Elaine C. Wirrell, Tanya Levin, Heather R. Adams, Angela Schulz, Alessandro Simonati, Jonathan W. Mink, Norberto Guelbert, Danielle Peifer, Meral Topçu, Erika F. Augustine, Miriam Nickel

المساهمون: HUS Children and Adolescents, Lastenneurologian yksikkö, University of Helsinki, Clinicum, HUS Head and Neck Center, Silmäklinikka

المصدر: Pediatric neurology. 120

مصطلحات موضوعية: Movement disorders, Palliative care, Clinical care, Drug-resistant epilepsy, Lysosomal storage disease, CHILDREN, Disease, FORMS, 3124 Neurology and psychiatry, 0302 clinical medicine, Multidisciplinary approach, 3123 Gynaecology and paediatrics, BRAIN, Child, Palliative Care, 3. Good health, Phenotype, Neurology, Caregivers, Child, Preschool, Practice Guidelines as Topic, Disease Progression, medicine.symptom, Palmitoyl-protein thioesterase 1, SLEEP DISORDERS, medicine.medical_specialty, Consensus, Adolescent, Visual impairment, Infantile neuronal ceroid lipofuscinosis, 03 medical and health sciences, PPT1, Quality of life (healthcare), Rare Diseases, Developmental Neuroscience, Neuronal Ceroid-Lipofuscinoses, Stakeholder Participation, 030225 pediatrics, medicine, Humans, business.industry, MUTATIONS, 3112 Neurosciences, Infant, Membrane Proteins, STEM-CELL TRANSPLANTATION, INFANTILE TYPE, NEURONAL CEROID-LIPOFUSCINOSIS, PROTEIN THIOESTERASE DEFICIENCY, medicine.disease, GENE, Family medicine, Pediatrics, Perinatology and Child Health, Neurology (clinical), Thiolester Hydrolases, business, Rare disease, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1033998e07f02ffe4c877d213c18ce7Test
https://pubmed.ncbi.nlm.nih.gov/34000449Test

المؤلفون: Angela Schulz, Svetlana Mikhailova, Lenora Lehwald, Charlie Fairhurst, Renée Shediac, Ruth Williams, Szilard Kiss, Jessica L. Cohen-Pfeffer, Heather R. Adams, Meral Topçu, Jonas Denecke, Martin Blohm, Annamaria Kofler, Ina von Löbbecke, Margie Frazier, Norberto Guelbert, Mary-Anne Leung, Katherine B. Sims, Emily de los Reyes, Jonathan W. Mink, John A. Lawson, Andrea West, Miriam Nickel, Nicola Specchio, Kristen Drago

المصدر: Molecular Genetics and Metabolism. 117:S103-S104

مصطلحات موضوعية: Medical education, Endocrinology, Endocrinology, Diabetes and Metabolism, Expert opinion, Genetics, Disease, Psychology, Molecular Biology, Biochemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cb9c5becf886ece6ddadcdaa554c86caTest
https://doi.org/10.1016/j.ymgme.2015.12.432Test