المؤلفون: Antonietta Tarallo, Carla Damiano, Sandra Strollo, Nadia Minopoli, Alessia Indrieri, Elena Polishchuk, Francesca Zappa, Edoardo Nusco, Simona Fecarotta, Caterina Porto, Marcella Coletta, Roberta Iacono, Marco Moracci, Roman Polishchuk, Diego Luis Medina, Paola Imbimbo, Daria Maria Monti, Maria Antonietta De Matteis, Giancarlo Parenti

المصدر: EMBO Molecular Medicine, Vol 13, Iss 11, Pp n/a-n/a (2021)

مصطلحات موضوعية: alpha‐glucosidase, enzyme replacement therapy, N‐acetylcysteine, oxidative stress, Pompe disease, Medicine (General), R5-920, Genetics, QH426-470

العلاقة: https://doi.org/10.15252/emmm.202114434Test; https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test; https://doaj.org/article/c9d76b1dfda5478da27f60239b67fa37Test

الإتاحة: https://doi.org/10.15252/emmm.202114434Test
https://doaj.org/article/c9d76b1dfda5478da27f60239b67fa37Test

المؤلفون: Giancarlo Parenti, Diego L Medina, Andrea Ballabio

المصدر: EMBO Molecular Medicine, Vol 13, Iss 2, Pp n/a-n/a (2021)

مصطلحات موضوعية: autophagy, lysosomal biology, lysosomal storage diseases, lysosomes, Medicine (General), R5-920, Genetics, QH426-470

العلاقة: https://doi.org/10.15252/emmm.202012836Test; https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test; https://doaj.org/article/af55b965be18440e8fdcf0608db34707Test

الإتاحة: https://doi.org/10.15252/emmm.202012836Test
https://doaj.org/article/af55b965be18440e8fdcf0608db34707Test

المؤلفون: Iris Scala, Luciana Esposito, Giancarlo Parenti, C. Pennino, Giuseppe Cardillo, Carla Ungaro, Michelina Sibilio, Adriana Zagari, Generoso Andria, Francesco Salvatore, Aurora Daniele

المصدر: FEBS Journal. 276:2048-2059

مصطلحات موضوعية: Genetics, Phenylalanine hydroxylase, Locus (genetics), Cell Biology, Tetrahydrobiopterin, Biology, medicine.disease, Biochemistry, Molecular biology, Phenotype, Hyperphenylalaninemia, Genotype, medicine, OMIM : Online Mendelian Inheritance in Man, biology.protein, Molecular Biology, Gene, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::18e59601b8a7c93f9bb2a83ccab6e45bTest
https://doi.org/10.1111/j.1742-4658.2009.06940.xTest

المؤلفون: G. Andria, Salvatore Cucchiara, Giancarlo Parenti, R. Berni Canani, Gianluca Terrin, Michelina Sibilio, R. Della Casa, Daniela Melis

المساهمون: Melis, D, Parenti, Giancarlo, DELLA CASA, Roberto, Sibilio, M, BERNI CANANI, Roberto, Terrin, G, Cucchiara, S, Andria, G., Parenti, G

المصدر: Acta Paediatrica. 92:1415-1421

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, crohn's disease, g-csf, Disease, Neutropenia, Glycogen Storage Disease Type I, glycogen storage disease ib, Gastroenterology, Inflammatory bowel disease, Endoscopy, Gastrointestinal, Crohn Disease, Internal medicine, Glycogen Storage Disease Type Ib, Medicine, Humans, neutropenia, Colitis, Child, Crohn's disease, Leukopenia, business.industry, Colonoscopy, General Medicine, medicine.disease, digestive system diseases, Surgery, Barium meal, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cf8815813722ac33918c94b50ec8577Test
https://doi.org/10.1111/j.1651-2227.2003.tb00825.xTest

المؤلفون: A. Correra, Filippo M. Santorelli, M. T. Carbone, Carlo Dionisi-Vici, Simona Fecarotta, Pietro Vajro, Giancarlo Parenti, R. Della Casa, Giuliano Torre, A Zuppaldi, G. Andria, Silvia Riva

المساهمون: Fecarotta, Simona, Parenti, Giancarlo, Vajro, Pietro, Zuppaldi, Alfredo, DELLA CASA, Roberto, Carbone, Mt, Correra, A, Torre, G, Riva, S, DIONISI VICI, C, Santorelli, Fm, Andria, Generoso

المصدر: Journal of Inherited Metabolic Disease. 29:186-189

مصطلحات موضوعية: Male, Ornithine, medicine.medical_specialty, Pathology, Fulminant, medicine.medical_treatment, Liver transplantation, Arginine, Mitochondrial Membrane Transport Proteins, Gastroenterology, Hepatitis, Internal medicine, Diet, Protein-Restricted, Genetics, Coagulopathy, medicine, Humans, Hyperammonemia, Aspartate Aminotransferases, Fulminant hepatitis, Genetics (clinical), medicine.diagnostic_test, business.industry, Metabolic disorder, Proteins, Alanine Transaminase, Syndrome, medicine.disease, Liver, Child, Preschool, Amino Acid Transport Systems, Basic, Citrulline, Liver function tests, business, Metabolism, Inborn Errors

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b546ff0a4347936fc141653889d7328Test
https://doi.org/10.1007/s10545-006-0120-7Test

المؤلفون: Daniela Melis, Rosanna Gatti, M. Di Rocco, F. Papadia, Alberto Burlina, A. Donati, Marta Torcoletti, Rossella Parini, R. Della Casa, Elisabetta Riva, Francesca Furlan, G. Andria, V. Benigno, Giancarlo Parenti, C. Dionisi Vici

المساهمون: Melis, Daniela, Parenti, Giancarlo, Gatti, R, DELLA CASA, Roberto, Parini, R, Riva, E, Burlina, Ab, DIONISI VICI, C, DI ROCCO, M, Furlan, F, Torcoletti, M, Papadia, F, Donati, A, Benigno, V, Andria, Generoso

المصدر: Clinical Endocrinology. 63:19-25

مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Renal function, Angiotensin-Converting Enzyme Inhibitors, Glycogen Storage Disease Type I, urologic and male genital diseases, Severity of Illness Index, Nephropathy, Endocrinology, Internal medicine, medicine, Albuminuria, Humans, Age of Onset, Child, Prospective cohort study, Retrospective Studies, Proteinuria, business.industry, Infant, medicine.disease, female genital diseases and pregnancy complications, Treatment Outcome, Child, Preschool, ACE inhibitor, Disease Progression, Kidney Diseases, Microalbuminuria, medicine.symptom, business, Glomerular hyperfiltration, Glomerular Filtration Rate, medicine.drug, Kidney disease

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6797aaac9c85b48baa3e962e2c0acfe7Test
https://doi.org/10.1111/j.1365-2265.2005.02292.xTest

المؤلفون: Gianfranco Sebastio, G. Andria, V. Farina, Giancarlo Parenti, M. Lecora, R. Della Casa, Luigi Titomanlio

المصدر: American Journal of Medical Genetics. 86:82-85

مصطلحات موضوعية: medicine.medical_specialty, Pathology, business.industry, Brachydactyly, Dwarfism, Consanguinity, medicine.disease, Osteochondrodysplasia, Short stature, Endocrinology, Dysplasia, Internal medicine, medicine, Lysosomal storage disease, Joint Contracture, medicine.symptom, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::69eb583b78a48ea8c3f2c54018c8a0e4Test
https://doi.org/10.1002Test/(sici)1096-8628(19990903)86:1<82::aid-ajmg16>3.0.co;2-o

المؤلفون: Nicola Brunetti-Pierri, Andrea Ballabio, Maria Grazia Rizzolo, Giancarlo Parenti, Generoso Andria, Loris Bernard, Brunella Franco, Piera Buttitta, Germana Meroni

المساهمون: G., Parenti, P., Buttitta, G., Meroni, Franco, Brunella, L., Bernard, Mg, Rizzolo, BRUNETTI PIERRI, Nicola, Ballabio, Andrea, G. A. N. D. R. I., A., Parenti, Giancarlo, Buttitta, Piera, Meroni, Germana, Bernard, Lori, Rizzolo, Maria Grazia, Brunetti Pierri, Nicola, Andria, Generoso

المصدر: American Journal of Medical Genetics. 73:139-143

مصطلحات موضوعية: Male, X Chromosome, Genetic Linkage, DNA Mutational Analysis, Chondrodysplasia punctata, ARSE gene, arylsulfatase E, Biology, medicine.disease_cause, Chondrodysplasia punctata, Peroxisomal disorder, X-linked recessive chondrodysplasia punctata, medicine, Humans, Point Mutation, Arylsulfatase E, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Arylsulfatases, Genetics, Mutation, ARSE gene, Point mutation, Infant, Newborn, Single-strand conformation polymorphism, arylsulfatase E, medicine.disease, Osteochondrodysplasia, Radiography, sense organs

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f30f541a6e51767a49fc34ba22da6390Test
https://doi.org/10.1002Test/(sici)1096-8628(19971212)73:2<139::aid-ajmg7>3.0.co;2-p

المؤلفون: Carla Colombo, P Strisciuglio, M. Lecora, Generoso Andria, V. Guzzetta, Giancarlo Parenti, E. De Fabiani, G. Galli, Gaetano Corso

المصدر: Acta Paediatrica. 85:937-942

مصطلحات موضوعية: medicine.medical_specialty, Ultraviolet spectrophotometry, Bile acid, business.industry, Cholesterol, medicine.drug_class, General Medicine, Reductase, medicine.disease, Gastroenterology, Sterol, chemistry.chemical_compound, Endocrinology, Plasma cholesterol, chemistry, Smith–Lemli–Opitz syndrome, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Clinical genetic, lipids (amino acids, peptides, and proteins), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e226240c7b3d85785035ff1d9cb6416fTest
https://doi.org/10.1111/j.1651-2227.1996.tb14190.xTest

المؤلفون: Caterina Porto, Generoso Andria, Antonio Pisani, Giancarlo Parenti

المساهمون: Pisani, Antonio, Porto, C, Andria, Generoso, Parenti, Giancarlo

المصدر: Journal of Inherited Metabolic Disease. 37:145-146

مصطلحات موضوعية: Male, 1-Deoxynojirimycin, Alpha (ethology), Pharmacology, law.invention, law, Genetics, medicine, Humans, Genetics (clinical), biology, Chemistry, Chinese hamster ovary cell, Enzyme replacement therapy, Fibroblasts, medicine.disease, Fabry disease, Recombinant Proteins, Enzyme assay, Pharmacological chaperone, Biochemistry, Cell culture, alpha-Galactosidase, biology.protein, Recombinant DNA, Fabry Disease, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c79e88c4e998fec1e9cfb2bd23a7790Test
https://doi.org/10.1007/s10545-013-9641-zTest