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: 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: L Scippa, Pietro Strisciuglio, P. Caso, Vincenzo Farina, F de Leva, Giancarlo Parenti

المساهمون: Farina, V, de Leva, F, Caso, P, Scippa, L, Parenti, Giancarlo, Strisciuglio, Pietro, Parenti, G

المصدر: Acta Paediatrica. 81:702-704

مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Heart disease, business.industry, Mucopolysaccharidosis I, Mucopolysaccharidosis, General Medicine, Mucopolysaccharidoses, medicine.disease, Echocardiography, Doppler, Mucopolysaccharidosis III, Child, Preschool, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Cardiology, Humans, Female, Child, business, Echo doppler, Mucopolysaccharidosis II

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ff34d49fcbf5c05b0ae7051bc4bbc23Test
https://doi.org/10.1111/j.1651-2227.1992.tb12339.xTest