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1دورية أكاديمية
المؤلفون: Line Gutte Borgwardt, Ferdinando Ceravolo, Giulia Zardi, Andrea Ballabeni, Allan Meldgaard Lund
المصدر: JIMD Reports, Vol 64, Iss 2, Pp 187-198 (2023)
مصطلحات موضوعية: alpha‐mannosidosis, antidrug antibody, infusion‐related reactions, MAN2B1, velmanase alfa, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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2دورية أكاديمية
المؤلفون: Julia B. Hennermann, Nathalie Guffon, Federica Cattaneo, Ferdinando Ceravolo, Line Borgwardt, Allan M. Lund, Mercedes Gil-Campos, Anna Tylki-Szymanska, Nicole M. Muschol
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
مصطلحات موضوعية: Alpha-mannosidosis, Recombinant alpha-mannosidase, Velmanase alfa, Patient registry, Enzyme-replacement therapy, Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Bruno P. Imbimbo, Stefania Ippati, Ferdinando Ceravolo, Mark Watling
المصدر: Alzheimer’s & Dementia: Translational Research & Clinical Interventions, Vol 6, Iss 1, Pp n/a-n/a (2020)
مصطلحات موضوعية: Alzheimer's disease, parabiosis, plasma exchange therapy, plasmapheresis, therapeutic plasma exchange, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2352-8737
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4
المؤلفون: Line Gutte Borgwardt, Ferdinando Ceravolo, Giulia Zardi, Andrea Ballabeni, Allan Meldgaard Lund
المصدر: JIMD Reports. 64:187-198
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Internal Medicine, Biochemistry, Genetics and Molecular Biology (miscellaneous)
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5
المؤلفون: Nathalie Guffon, Vassiliki Konstantopoulou, Julia B. Hennermann, Nicole Muschol, Irene Bruno, Albina Tummolo, Ferdinando Ceravolo, Giulia Zardi, Andrea Ballabeni, Allan Lund
المصدر: Journal of Inherited Metabolic Disease.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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6
المؤلفون: Julia Hennermann, Nathalie Guffon, Federica Cattaneo, Ferdinando Ceravolo, Line Borgwardt, Allan M. Lund, Mercedes Gil-Campos, Anna Tylki-Szymanska, Nicole M. Muschol
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Velmanase alfa, Recombinant alpha-mannosidase, Research, lcsh:R, 610 Medizin, lcsh:Medicine, alpha-Mannosidase, 610 Medical sciences, alpha-Mannosidosis, Humans, Multicenter Studies as Topic, Patient registry, Enzyme Replacement Therapy, Prospective Studies, Registries, Alpha-mannosidosis, Enzyme-replacement therapy
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4050e371fe32993fca06ff4e5bfab79
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7
المؤلفون: Michele Grisolia, Ferdinando Ceravolo, Francesca Falvo, Simona Sestito, Renato Cantaffa, Mirella Filocamo, Daniela Concolino, Serena Grossi, Maria Teresa Moricca, Pietro Strisciuglio
المساهمون: Sestito, Simona, Filocamo, Mirella, Ceravolo, Ferdinando, Falvo, Francesca, Grisolia, Michele, Moricca, Maria Teresa, Cantaffa, Renato, Grossi, Serena, Strisciuglio, Pietro, Concolino, Daniela
المصدر: Journal of Human Genetics. 62:507-511
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Ataxia, Genotype, medicine.medical_treatment, Splenectomy, Hepatosplenomegaly, Disease, 030105 genetics & heredity, Biology, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Genetics, medicine, Humans, Dementia, Age of Onset, Genetics (clinical), Sweden, Gaucher Disease, beta-Glucosidase, Horizontal gaze palsy, Middle Aged, medicine.disease, Osteopenia, Phenotype, Italy, Female, medicine.symptom, 030217 neurology & neurosurgery
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8
المؤلفون: Ferdinando Ceravolo, Martino Ruggieri, Vincenzo Salpietro, Daniela Concolino, Agata Polizzi, Giuseppina Leone, Stefania Ferraro, Michele Grisolia, Italia Mascaro, Daniela Procopio, Francesca Falvo
المصدر: Journal of Pediatric Biochemistry. :019-024
مصطلحات موضوعية: hyperpheny lalaninemia, medicine.medical_specialty, GTP cyclohydrolase I, phenylalanine, sepiapterin reductase, Biopterin, chemistry.chemical_compound, 6-pyruvoyltetrahydropterin synthase, dihydropteridine reductase, homovanillic acid, hyperphenylalaninemia, pterin-4′-carbinolamine dehydratase, tetrahydrobiopterin, Hyperphenylalaninemia, Internal medicine, medicine, Sepiapterin reductase, Tetrahydrobiopterin deficiency, 6-pyruvoyltetrahy-dropterin synthase, Tyrosine hydroxylase, Chemistry, pterin 4'-carbinolamine dehydratase, Biochemistry (medical), Tetrahydrobiopterin, Tryptophan hydroxylase, medicine.disease, Endocrinology, Sepiapterin reductase deficiency, Pediatrics, Perinatology and Child Health, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98c6d49e4a713b4f05e91a2aa8138281
https://doi.org/10.1055/s-0036-1582250 -
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المؤلفون: Daniela Procopio, Martino Ruggieri, Ferdinando Ceravolo, Stefania Ferraro, Vincenzo Salpietro, Daniela Concolino, Giuseppe Bonapace, Agata Polizzi, Italia Mascaro, Maria Teresa Moricca
المصدر: Journal of Pediatric Biochemistry. :011-018
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Microcephaly, Phenylalanine hydroxylase, phenylalanine, phenylketonuria, phenylalanine hydroxylase, Phenylalanine, Brain damage, Hyperphenylalaninemia, Internal medicine, medicine, neurological, Newborn screening, hyperphenylalaninemia, biology, Chemistry, Biochemistry (medical), Metabolic disorder, nutritional and metabolic diseases, medicine.disease, diet, PKU, Endocrinology, Inborn error of metabolism, Pediatrics, Perinatology and Child Health, biology.protein, medicine.symptom
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c5a288969d2597e9b6fd40b10ba76c0
https://doi.org/10.1055/s-0036-1582237 -
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المؤلفون: Agata Polizzi, Vincenzo Salpietro, Rosalbina Apa, Angela Nicoletti, Simona Sestito, Ettore Stefanelli, Ferdinando Ceravolo, Daniela Concolino, Martino Ruggieri, Francesca Falvo
المصدر: Journal of Pediatric Biochemistry. :030-038
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_treatment, Mucopolysaccharidosis, Disease, Hematopoietic stem cell transplantation, Blood–brain barrier, lysosomal storage disorders, 03 medical and health sciences, 0302 clinical medicine, medicine, Substrate reduction therapy, 030212 general & internal medicine, business.industry, Biochemistry (medical), nutritional and metabolic diseases, Enzyme replacement therapy, blood-brain barrier, medicine.disease, Fabry disease, Pathophysiology, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Immunology, business, enzyme replacement therapy, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d00d12b52481000f443f3a1ebaf6d89d
https://doi.org/10.1055/s-0036-1582224