المؤلفون: Burlina, A, Bettocchi, I, Biasucci, G, Bordugo, A, Gasperini, S, La Spina, L, Maines, E, Meli, C, Menni, F, Paci, S, Procopio, E, Rossi, A, Rubert, L, Spada, M, Tubili, F, Tummolo, A

المساهمون: Burlina, A, Bettocchi, I, Biasucci, G, Bordugo, A, Gasperini, S, La Spina, L, Maines, E, Meli, C, Menni, F, Paci, S, Procopio, E, Rossi, A, Rubert, L, Spada, M, Tubili, F, Tummolo, A

مصطلحات موضوعية: Amino Acid Metabolism, Inborn Error, Glutamate, Human, Hyperammonemia, Propionic Acidemia

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000841903400025; volume:26; issue:14; firstpage:5136; lastpage:5143; numberofpages:8; journal:EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES; http://hdl.handle.net/11588/892061; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85135237859

الاتاحة: http://hdl.handle.net/11588/892061
https://doi.org/10.26355/eurrev_202207_29302

المؤلفون: Papa V, Salfi NCM, Costa R, Bettocchi I, Ricci E, Cordelli DM, Locatelli F, Caramelli F, Cenacchi G.

المساهمون: G. Donelli, V. Papa, N. Salfi, R. Costa, I. Bettocchi, E. Ricci, D. Cordelli, F. Locatelli, F. Caramelli, G. Cenacchi

مصطلحات موضوعية: Electron microscopy, Hepatiti, Herpes simplex, Postmorten diagnosi, Virus, Settore MED/39 - Neuropsichiatria Infantile

Relation: info:eu-repo/semantics/altIdentifier/isbn/978-3-031-01994-4; info:eu-repo/semantics/altIdentifier/isbn/978-3-031-01995-1; info:eu-repo/semantics/altIdentifier/pmid/34302289; ispartofbook:Advances in Microbiology, Infectious Diseases and Public Health; volume:1369; firstpage:93; lastpage:100; numberofpages:8; serie:ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY; alleditors:G. Donelli; http://hdl.handle.net/2434/897101; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85129996735

الاتاحة: http://hdl.handle.net/2434/897101
https://doi.org/10.1007/5584_2021_659

المؤلفون: Tonin, R, Caciotti, A, Funghini, S, Pasquini, E, Mooney, Sd, Cai, B, Proncopio, E, Donati, Ma, Baronio, F, Bettocchi, I, CASSIO, ALESSANDRA, Biasucci, G, Bordugo, A, la Marca, G, Guerrini, R, Morrone, A.

المساهمون: Tonin, R, Caciotti, A, Funghini, S, Pasquini, E, Mooney, Sd, Cai, B, Proncopio, E, Donati, Ma, Baronio, F, Bettocchi, I, Cassio, A, Biasucci, G, Bordugo, A, la Marca, G, Guerrini, R, Morrone, A.

مصطلحات موضوعية: ACADS, Acyl CoA-deydrogenase, short chain, C4-C, butyrylcarnitine, EMA, ethylmalonic acid, LC–MS/MS, Tandem mass spectrometry, NBS, Newborn screening, SCAD, Short-chain acyl-CoA dehydrogenase, SCADD, Short-chain acyl-CoA dehydrogenase deficiency, Synonymous mutation

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/27051597; info:eu-repo/semantics/altIdentifier/wos/WOS:000386869500014; volume:5; firstpage:114; lastpage:119; numberofpages:6; journal:BBA CLINICAL; http://hdl.handle.net/11585/545885; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84961182929; https://www.sciencedirect.com/science/article/pii/S2214647416300083

الاتاحة: http://hdl.handle.net/11585/545885
https://doi.org/10.1016/j.bbacli.2016.03.004
https://www.sciencedirect.com/science/article/pii/S2214647416300083

المؤلفون: Papa V, Salfi NCM, Costa R, Bettocchi I, Ricci E, Cordelli DM, Locatelli F, Caramelli F, Cenacchi G.

المساهمون: V. Papa, N. Salfi, R. Costa, I. Bettocchi, E. Ricci, D. Cordelli, F. Locatelli, F. Caramelli, G. Cenacchi

مصطلحات موضوعية: Settore MED/39 - Neuropsichiatria Infantile

Relation: info:eu-repo/semantics/altIdentifier/pmid/34822144; ispartofbook:Advances in Experimental Medicine and Biology; serie:ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY; http://hdl.handle.net/2434/897104; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85129997233

الاتاحة: http://hdl.handle.net/2434/897104
https://doi.org/10.1007/5584_2021_688

المؤلفون: Caletti M. T., Bettocchi I., Baronio F., Brodosi L., Cataldi S., Petroni M. L., Cassio A., Marchesini G.

المساهمون: Caletti M.T., Bettocchi I., Baronio F., Brodosi L., Cataldi S., Petroni M.L., Cassio A., Marchesini G.

مصطلحات موضوعية: Dietary intake, Genotype, Phenotype, Adult, Female, Fetal Growth Retardation, Genetic Predisposition to Disease, Gestational Weight Gain, Heart Defects, Congenital, Human, Live Birth, Phenylalanine, Phenylalanine Hydroxylase, Phenylketonuria, Maternal, Pregnancy, Risk Factor, Solitary Kidney, Treatment Outcome, Young Adult, Diet, Protein-Restricted

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/32409273; info:eu-repo/semantics/altIdentifier/wos/WOS:000540701500014; volume:30; issue:6; firstpage:977; lastpage:983; numberofpages:7; journal:NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES; http://hdl.handle.net/11585/782751; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084396133

الاتاحة: http://hdl.handle.net/11585/782751
https://doi.org/10.1016/j.numecd.2020.02.003

المؤلفون: BURLINA, A., BETTOCCHI, I., BIASUCCI, G., BORDUGO, A., GASPERINI, S., LA SPINA, L., MAINES, E., MELI, C., MENNI, F., PACI, S., PROCOPIO, E., ROSSI, A., RUBERT, L., SPADA, M., TUBILI, F., TUMMOLO, A.

المصدر: European Review for Medical & Pharmacological Sciences; 2022, Vol. 26 Issue 14, p5136-5143, 8p

المؤلفون: Baronio F., Righi B., Righetti F., Bettocchi I., Ortolano R., Faldella G., Rondelli R., Pession A., Cassio A.

المساهمون: Baronio F., Righi B., Righetti F., Bettocchi I., Ortolano R., Faldella G., Rondelli R., Pession A., Cassio A.

مصطلحات موضوعية: carnitine, preterm infants, case-control study

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/31291643; info:eu-repo/semantics/altIdentifier/wos/WOS:000496506400020; volume:86; issue:5; firstpage:646; lastpage:650; numberofpages:5; journal:PEDIATRIC RESEARCH; http://hdl.handle.net/11585/726543; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85069052866; http://www.nature.com/pr/index.html

الاتاحة: http://hdl.handle.net/11585/726543
https://doi.org/10.1038/s41390-019-0497-2
http://www.nature.com/pr/index.html

المؤلفون: Dagnino M, Caridi G, Marsciani M, Bettocchi I, Tassinari D, Bernardi F, Chiodo F, CAMPAGNOLI, MONICA, GALLIANO, MONICA, MINCHIOTTI, LORENZO

المساهمون: Dagnino, M, Caridi, G, Marsciani, M, Bettocchi, I, Tassinari, D, Bernardi, F, Chiodo, F, Campagnoli, Monica, Galliano, Monica, Minchiotti, Lorenzo

مصطلحات موضوعية: "Analbuminemia", "Mutation", "DNA sequence"

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000274953000013; volume:40; issue:3; firstpage:281; lastpage:284; numberofpages:4; journal:EUROPEAN JOURNAL OF CLINICAL INVESTIGATION; http://hdl.handle.net/11571/210156; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77649215775

الاتاحة: http://hdl.handle.net/11571/210156

المؤلفون: Dagnino, M., Caridi, G., Marsciani, M., Bettocchi, I., Tassinari, D., Bernardi, F., Chiodo, F., Campagnoli, M., Galliano, M., Minchiotti, L.

المصدر: European Journal of Clinical Investigation ; volume 40, issue 3, page 281-284 ; ISSN 0014-2972 1365-2362

الاتاحة: http://dx.doi.org/10.1111/j.1365-2362.2010.02256.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2362.2010.02256.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2362.2010.02256.x

المؤلفون: Balsamo, A., Rinaldini, D., Riepe, F., Bettocchi, I., Pirazzoli, P., Iughetti, Lorenzo, Roversi, M. F., Cicognani, A.

مصطلحات موضوعية: Aldosterone, ipokaliemia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3674::e5dd94c73a5b548d76b27118fad22cd2
https://hdl.handle.net/11380/740828

المؤلفون: Bettocchi, Ilaria <1976>

Thesis Advisors: Bal, Milva Orquidea

مصطلحات موضوعية: MED/38 Pediatria generale e specialistica

وصف الملف: application/pdf

الاتاحة: http://amsdottorato.unibo.it/4593/

المؤلفون: Ilaria Bettocchi, Giulio Marchesini, Alessandra Cassio, Sara Cataldi, Lucia Brodosi, Maria Letizia Petroni, Federico Baronio, Maria Turchese Caletti

المساهمون: Caletti M.T., Bettocchi I., Baronio F., Brodosi L., Cataldi S., Petroni M.L., Cassio A., Marchesini G.

مصطلحات موضوعية: Adult, Heart Defects, Congenital, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Phenylketonuria, Maternal, Genotype, Endocrinology, Diabetes and Metabolism, Phenylalanine, Dietary control, Medicine (miscellaneous), 030209 endocrinology & metabolism, 030204 cardiovascular system & hematology, Body weight, 03 medical and health sciences, Solitary Kidney, Young Adult, 0302 clinical medicine, Hyperphenylalaninemia, Risk Factors, Pregnancy, medicine, Diet, Protein-Restricted, MATERNAL PKU, Humans, Genetic Predisposition to Disease, Nutrition and Dietetics, Fetal Growth Retardation, business.industry, Dietary intake, Risk Factor, nutritional and metabolic diseases, Phenylalanine Hydroxylase, medicine.disease, Gestational Weight Gain, Phenotype, Treatment Outcome, Metabolic phenotype, Female, Cardiology and Cardiovascular Medicine, business, Live Birth, Human

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::533f66c645e3ec56d0a8b0c70994268b
http://hdl.handle.net/11585/782751

المؤلفون: Elena Proncopio, Maria Alice Donati, Federico Baronio, Amelia Morrone, Giancarlo la Marca, Ilaria Bettocchi, Giacomo Biasucci, Binghuang Cai, Sean D. Mooney, Anna Caciotti, Silvia Funghini, Rodolfo Tonin, Andrea Bordugo, Renzo Guerrini, Elisabetta Pasquini, Alessandra Cassio

المساهمون: Tonin, R, Caciotti, A, Funghini, S, Pasquini, E, Mooney, Sd, Cai, B, Proncopio, E, Donati, Ma, Baronio, F, Bettocchi, I, Cassio, A, Biasucci, G, Bordugo, A, la Marca, G, Guerrini, R, Morrone, A.

المصدر: BBA Clinical

مصطلحات موضوعية: 0301 basic medicine, Silent mutation, SCAD, In silico, ACADS, Acyl CoA-deydrogenase, short chain, Disease, Biology, Bioinformatics, C4-C, butyrylcarnitine, Pathology and Forensic Medicine, ACADS, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), Allele, Genetics, SCADD, Short-chain acyl-CoA dehydrogenase deficiency, SCAD, Short-chain acyl-CoA dehydrogenase, Regular Article, EMA, ethylmalonic acid, Synonymous mutation, Phenotype, Short-chain acyl-CoA dehydrogenase, LC–MS/MS, Tandem mass spectrometry, 030104 developmental biology, RNA splicing, Molecular Medicine, Synonymous substitution, NBS, Newborn screening, 030217 neurology & neurosurgery

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d06e9c88fbb191a22b871aba196ab5c
http://europepmc.org/articles/PMC4816031

المؤلفون: Francesca Righetti, Andrea Pession, Beatrice Righi, Roberto Rondelli, Giacomo Faldella, Ilaria Bettocchi, Rita Ortolano, Federico Baronio, Alessandra Cassio

المساهمون: Baronio F., Righi B., Righetti F., Bettocchi I., Ortolano R., Faldella G., Rondelli R., Pession A., Cassio A.

مصطلحات موضوعية: medicine.medical_specialty, Birth weight, Body weight, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Carnitine, 030225 pediatrics, Internal medicine, medicine, carnitine, preterm infants, case-control study, Birth Weight, Humans, Longitudinal Studies, Free carnitine, business.industry, Infant, Newborn, Case-control study, Parenteral nutrition, Case-Control Studies, Pediatrics, Perinatology and Child Health, Dried Blood Spot Testing, business, Infant, Premature, 030217 neurology & neurosurgery, medicine.drug

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::101e0fa679335cefbcfa4e63b6690b68
http://hdl.handle.net/11585/726543

المؤلفون: GALLUCCI, MARCELLA, BALSAMO, ANTONIO, MENABO', SOARA, BETTOCCHI, ILARIA, BAL, MILVA ORQUIDEA, CICOGNANI, ALESSANDRO

المساهمون: Gallucci M., Balsamo A., Menabò S., Bettocchi I., Bal M., Cicognani A.

وصف الملف: STAMPA

Relation: ispartofbook:47th Annual Meeting, Istanbul, September 2008: Abstracts; 47th ESPE Annual Meeting; volume:70; issue:suppl 1; firstpage:255; lastpage:255; numberofpages:1; journal:HORMONE RESEARCH; http://hdl.handle.net/11585/104617

الاتاحة: http://hdl.handle.net/11585/104617

المؤلفون: CASSIO, ALESSANDRA, MONTI, SARA, RIZZELLO, ANGELA, BETTOCCHI, ILARIA, BARONIO, FEDERICO, D'ADDABBO, GRAZIANA, BAL, MILVA ORQUIDEA, BALSAMO, ANTONIO

المساهمون: Cassio A., Monti S., Rizzello A., Bettocchi I., Baronio F., D'Addabbo G., Bal M.O., Balsamo A. .

مصطلحات موضوعية: Levothyroxine, Initial Treatment, CONGENITAL HYPOTHYROIDISM

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/23312689; info:eu-repo/semantics/altIdentifier/wos/WOS:000319502700036; volume:162; issue:6; firstpage:1264; lastpage:1269; numberofpages:6; journal:THE JOURNAL OF PEDIATRICS; http://hdl.handle.net/11585/133954; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84880570702

الاتاحة: http://hdl.handle.net/11585/133954
https://doi.org/10.1016/j.jpeds.2012.11.070

المؤلفون: BALSAMO, ANTONIO, BETTOCCHI, ILARIA, BAL, MILVA ORQUIDEA, PESSION, ANDREA, CASSIO, ALESSANDRA, Rinaldini D, Marsigli A, Monti S, Baronio F, Rigetti F, Motta R

المساهمون: Balsamo A, Rinaldini D, Marsigli A, Monti S, Bettocchi I, Baronio F, Bal M, Rigetti F, Motta R, Pession A, Cassio A.

مصطلحات موضوعية: Screening neonatale, Iperplasia Surrenale Congenita, deficit 21-idrossilasi, MS MS /TM

وصف الملف: STAMPA

Relation: volume:17; firstpage:33; lastpage:42; numberofpages:10; journal:LIGAND ASSAY; http://hdl.handle.net/11585/127259

الاتاحة: http://hdl.handle.net/11585/127259

المؤلفون: Sara Monti, Angela Rizzello, Federico Baronio, Antonio Balsamo, Ilaria Bettocchi, Milva Orquidea Bal, Graziana D'Addabbo, Alessandra Cassio

المساهمون: Cassio A., Monti S., Rizzello A., Bettocchi I., Baronio F., D'Addabbo G., Bal M.O., Balsamo A. .

المصدر: The Journal of pediatrics. 162(6)

مصطلحات موضوعية: Male, medicine.medical_specialty, Heart disease, Chemistry, Pharmaceutical, Levothyroxine, Thyrotropin, Bioequivalence, Thyroid Function Tests, Thyroid function tests, Gastroenterology, law.invention, Neonatal Screening, Randomized controlled trial, law, Internal medicine, medicine, Congenital Hypothyroidism, Humans, Initial Treatment, Developmental quotient, Triiodothyronine, medicine.diagnostic_test, business.industry, Infant, Newborn, Infant, medicine.disease, Surgery, Congenital hypothyroidism, Thyroxine, Treatment Outcome, Pediatrics, Perinatology and Child Health, Female, business, medicine.drug, Tablets

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2247a347d0e83c1d55aa64cfb669c50b
https://pubmed.ncbi.nlm.nih.gov/23312689