-
1دورية أكاديميةExpanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
المؤلفون: Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo La Marca, Luisa La Spina, Tania Lorè, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi, Anna Paola Uccheddu
المصدر: International Journal of Neonatal Screening, Vol 8, Iss 3, p 47 (2022)
مصطلحات موضوعية: aminoacidemias, fatty acid oxidation disorders, inborn errors of metabolism, newborn screening, organic acidemias, urea cycle defects, Pediatrics, RJ1-570
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Francesca Furlan, Attilio Rovelli, Miriam Rigoldi, Mirella Filocamo, Barbara Tappino, Douglas Friday, Serena Gasperini, Silvana Mariani, Claudia Izzi, Maria Pia Bondioni, Cinzia Gellera, Anna Venerando, Nicoletta Villa, Maria del Carmen Rodriguez Perez, Fabio Pavan, Andrea Biondi, Rossella Parini
المصدر: Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 155-161 (2018)
مصطلحات موضوعية: NIHF, Non-immune hydrops fetalis, LSDs, MPS VII, GUSB gene, Beta-glucuronidase, Pediatrics, RJ1-570
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Matteo Paoletti, Anna Pichiecchio, Giovanna Stefania Colafati, Giorgio Conte, Federica Deodato, Serena Gasperini, Francesca Menni, Francesca Furlan, Laura Rubert, Fabio Maria Triulzi, Claudia Cinnante
المصدر: Frontiers in Neurology, Vol 11 (2020)
مصطلحات موضوعية: Pompe disease, IOPD, infantile-onset Pompe disease, brain MRI, ERT (enzyme replacement therapy), white matter (WM), Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
-
4
المؤلفون: Marco Bani, Selena Russo, Erika Raggi, Serena Gasperini, Serena Motta, Francesca Menni, Francesca Furlan, Graziella Cefalo, Sabrina Paci, Giuseppe Banderali, Paola Marchisio, Andrea Biondi, Maria Grazia Strepparava
المساهمون: Bani, M, Russo, S, Raggi, E, Gasperini, S, Motta, S, Menni, F, Furlan, F, Cefalo, G, Paci, S, Banderali, G, Marchisio, P, Biondi, A, Strepparava, M
مصطلحات موضوعية: parents' experience, communication of positivity, Pediatrics, Perinatology and Child Health, Public Health, Environmental and Occupational Health, Developmental and Educational Psychology, expanded newborn screening, MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, M-PSI/08 - PSICOLOGIA CLINICA, communication proce, information need
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7f172962d23553638cd2381dd635f9d
https://hdl.handle.net/10281/408055 -
5
المؤلفون: Giulia Rodella, Uta Matysiak, Jeannette Klein, Anna Sajeva, Natalie Weinhold, Francesca Menni, Christine Wagner, Sara Tucci, Francesca Furlan, Marco Spada, Sarah C. Grünert, Francesco Porta, A. Bordugo, Ute Spiekerkoetter
المصدر: Journal of inherited metabolic diseaseREFERENCES. 44(4)
مصطلحات موضوعية: Heterozygote, Genotype, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, 03 medical and health sciences, Neonatal Screening, Genetics, medicine, Humans, Genetic Testing, Allele, Gene, Genetics (clinical), Alleles, 030304 developmental biology, 0303 health sciences, Newborn screening, biology, 030305 genetics & heredity, Infant, Newborn, Reproducibility of Results, MCADD, medicine.disease, Molecular biology, Enzyme assay, In vitro, Mutation, biology.protein, ACADM Gene
-
6
المؤلفون: Serena Motta, Jean-Louis Guéant, Giancarlo Parenti, Maria Alice Donati, Giancarlo la Marca, Sabrina Malvagia, Catia Cavicchi, David-Alexandre Trégouët, Céline Chéry, Marta Daniotti, Silvia Falliano, Amelia Morrone, Alessia Gozzini, Miriam Rigoldi, Serena Gasperini, Renzo Guerrini, Francesca Furlan, Francesca Menni, Abderrahim Oussalah, Pierre-Emmanuel Morange, Concetta Meli, Albina Tummolo, Lorenzo Ferri
المساهمون: Gestionnaire, HAL Sorbonne Université 5, Centre de référence des maladies héréditaires du métabolisme (MaMEA Nancy-Brabois), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Naples Federico II = Università degli studi di Napoli Federico II, Azienda Ospedaliero-Universitaria Policlinico 'Gaspare Rodolico', Fondazione IRCCS Istituto Nazionale Tumori - National Cancer Institute [Milan], Meyer Children's Hospital [Florence, Italie], Università degli Studi di Firenze = University of Florence (UniFI), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli studi di Napoli Federico II, Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
المصدر: Clinical Epigenetics
Clinical Epigenetics, 2021, 13 (1), pp.137. ⟨10.1186/s13148-021-01117-2⟩
Clinical Epigenetics, BioMed Central, 2021, 13 (1), pp.137. ⟨10.1186/s13148-021-01117-2⟩مصطلحات موضوعية: 0301 basic medicine, Male, Locus (genetics), Homocystinuria, Compound heterozygosity, Methylmalonic aciduria and homocystinuria, 03 medical and health sciences, Secondary epimutation, 0302 clinical medicine, Neonatal Screening, Genetics, medicine, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Allele, Molecular Biology, Genetics (clinical), Genetic testing, Epi-cblC, medicine.diagnostic_test, business.industry, Research, cblC disease, Infant, Newborn, Expanded newborn screening (NBS), Peroxiredoxins, DNA Methylation, medicine.disease, MMACHC, Human genetics, 3. Good health, Promoter hypermethylation, Vitamin B 12, 030104 developmental biology, CpG island, cblC type, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, CBLC, business, Oxidoreductases, 030217 neurology & neurosurgery, Metabolism, Inborn Errors, Developmental Biology
وصف الملف: application/pdf
-
7
المؤلفون: Roberta Taurisano, Giovanna Stefania Colafati, Claudia Cinnante, Rossella Parini, Simona Fecarotta, Roberto Della Casa, Francesca Furlan, Maria Alice Donati, Anna Pichiecchio, Marta Rossi, Federica Deodato, Michele Sacchini, Roberto De Icco, Alberto Burlina, Maja Di Rocco, Francesca Menni
المصدر: Muscle & Nerve. 55:841-848
مصطلحات موضوعية: Male, Adductor magnus muscle, Physiology, Thigh, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, Cellular and Molecular Neuroscience, Gastrocnemius muscle, 0302 clinical medicine, Semimembranosus muscle, Tongue, Physiology (medical), Image Processing, Computer-Assisted, medicine, Edema, Humans, Child, Muscle, Skeletal, Pelvic girdle, Glycogen Storage Disease Type II, business.industry, Anatomy, Magnetic Resonance Imaging, Hyperintensity, medicine.anatomical_structure, Adipose Tissue, Child, Preschool, Shoulder girdle, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
-
8
المؤلفون: R. Manara, Marialetizia Motta, Giulia Polo, Alessandro P. Burlina, Francesca Furlan, Vincenzo Nigro, Rosa Salvioli, Andrea Celato, Marco Tartaglia, Massimo Tatti, G. Di Fruscio
المصدر: Clinical Genetics. 90:220-229
مصطلحات موضوعية: 0301 basic medicine, Prosaposin, Sanger sequencing, PROSAPOSIN DEFICIENCY, medicine.diagnostic_test, Magnetic resonance imaging, Consanguinity, Biology, Bioinformatics, Sphingolipid, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, Genetics, medicine, symbols, Brain magnetic resonance imaging, Gene, 030217 neurology & neurosurgery, Genetics (clinical)
-
9
المؤلفون: Laura Giordano, Johannes Zschocke, Ilaria Fasan, Andrea Celato, Monica Del Rizzo, Alberto Burlina, Carlo Moretti, Alfonso Galderisi, Francesca Furlan, Chiara Cazzorla
المصدر: European Journal of Pediatrics. 175:1123-1128
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, medicine.medical_treatment, Type 1 diabetes mellitus, 030209 endocrinology & metabolism, Glutaryl-CoA dehydrogenase, Glutaric aciduria type 1, Hypoglycemia, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Humans, Insulin, Glutaric acid 3-hydroxyglutaric acid, Insulin treatment dystonia, Pediatrics, Perinatology and Child Health, Medicine, Glucose homeostasis, Amino Acid Metabolism, Inborn Errors, Type 1 diabetes, Brain Diseases, Metabolic, business.industry, Brain, Infant, Perinatology and Child Health, medicine.disease, Magnetic Resonance Imaging, Hypotonia, Dystonia, Diabetes Mellitus, Type 1, Endocrinology, Hyperglycemia, Metabolic control analysis, medicine.symptom, business, 030217 neurology & neurosurgery
-
10
المؤلفون: Attilio Rovelli, Maria Pia Bondioni, Serena Gasperini, Douglas Friday, Fabio Pavan, Anna Venerando, Miriam Rigoldi, Mirella Filocamo, Francesca Furlan, Nicoletta Villa, Maria del Carmen Rodriguez Perez, Silvana Mariani, Barbara Tappino, Andrea Biondi, Claudia Izzi, Cinzia Gellera, Rossella Parini
المصدر: Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 155-161 (2018)مصطلحات موضوعية: 0301 basic medicine, Male, Beta-glucuronidase, Pediatrics, medicine.medical_specialty, Mucopolysaccharidosis, medicine.medical_treatment, GUSB gene, Mucopolysaccharidosis VII, Prenatal diagnosis, Case Report, Hematopoietic stem cell transplantation, LSDs, MPS VII, 030105 genetics & heredity, Anasarca, 03 medical and health sciences, Pregnancy, Haematopoietic cell transplantation, Hydrops fetalis, Prenatal Diagnosis, medicine, Humans, Non-immune hydrops fetalis, business.industry, lcsh:RJ1-570, Hematopoietic Stem Cell Transplantation, Infant, Newborn, Infant, lcsh:Pediatrics, medicine.disease, 030104 developmental biology, NIHF, HCT, Female, medicine.symptom, business, Rare disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ceeeb9bfd08ce5b56e85d4342c8d348
http://hdl.handle.net/11379/512204