المؤلفون: Vercelli, L., Vittonatto, E., Grifoni, S., Chiadò-Piat, L., Rolle, E., Spada, M., Danesino, C., Comi, G., Mongini, T.

المصدر: BMC Musculoskeletal Disorders; 2013, Vol. 14 Issue Suppl 2, pP12-P12, 1p

مصطلحات موضوعية: GENETICS, GLYCOGEN storage disease type II

المؤلفون: Di Rocco M; Department of Pediatrics, Unit of Rare Diseases IRCCS Istituto Giannina Gaslini, Genoa, Italy., Vici CD; Bambino Gesù Children'Hospital, Rome, Italy., Burlina A; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy., Venturelli F; Pediatric Unit, Istituti di Ricovero e Cura a Carattere Scientifico Azienda Ospedaliero- Universitaria di Bologna, University of Bologna, Bologna, Italy. francesco.venturelli3@gmail.com., Fiumara A; Referral Center for Inherited Metabolic Disorders, Pediatric Clinical, University-Hospital 'Gaspare Rodolico - San Marco', Catania, Italy.; Clinical and Experimental Medicine Department, University of Catania, Catania, Italy., Fecarotta S; Federico II University, Naples, Italy., Donati MA; Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy., Spada M; Department of Pediatrics, University of Torino, Torino, Italy., Concolino D; Department of Science of Health, Pediatric Unit, Magna Graecia University of Catanzaro, Catanzaro, Italy., Pession A; Pediatric Unit, Istituti di Ricovero e Cura a Carattere Scientifico Azienda Ospedaliero- Universitaria di Bologna, University of Bologna, Bologna, Italy.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 21; Vol. 18 (1), pp. 197. Date of Electronic Publication: 2023 Jul 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Gaucher Disease*/diagnosis , Lysosomal Storage Diseases*/diagnosis , Niemann-Pick Disease, Type A* , Niemann-Pick Diseases*, Humans ; Infant, Newborn ; Tandem Mass Spectrometry

المؤلفون: De Angelis ML; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy. marialaura.deangelis@iss.it., Francescangeli F; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy., Nicolazzo C; Department of Molecular Medicine, Liquid Biopsy Unit, Sapienza University, Viale Regina Elena 324, 00161, Rome, Italy., Signore M; RPPA Unit, Proteomics Area, Core Facilities, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy., Giuliani A; Environment and Health Department, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy., Colace L; Department of Surgical Sciences, Policlinico Umberto I/Sapienza University of Rome, Viale del Policlinico 155, 00161, Rome, Italy., Boe A; Core Facilities, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy., Magri V; Department of Radiological, Oncological and Pathological Sciences, Sapienza University, Viale del Policlinico 155, 00161, Rome, Italy., Baiocchi M; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy., Ciardi A; Department of Surgery 'Pietro Valdoni', Policlinico Umberto I/Sapienza University, Viale del Policlinico 155, 00161, Rome, Italy., Scarola F; Department of Surgery 'Pietro Valdoni', Policlinico Umberto I/Sapienza University, Viale del Policlinico 155, 00161, Rome, Italy., Spada M; Center of Animal Research and Welfare, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy., La Torre F; Surgical Sciences and Emergency Department, Policlinico Umberto I/Sapienza University of Rome, Viale del Policlinico 155, 00161, Rome, Italy., Gazzaniga P; Department of Molecular Medicine, Liquid Biopsy Unit, Sapienza University, Viale Regina Elena 324, 00161, Rome, Italy., Biffoni M; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy., De Maria R; Dipartimento di Medicina e Chirurgia Traslazionale, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168, Rome, Italy. ruggerodemaria@gmail.com.; Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli 8, 00168, Rome, Italy. ruggerodemaria@gmail.com., Zeuner A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy. a.zeuner@iss.it.

المصدر: Journal of experimental & clinical cancer research : CR [J Exp Clin Cancer Res] 2022 Mar 08; Vol. 41 (1), pp. 86. Date of Electronic Publication: 2022 Mar 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 8308647 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-9966 (Electronic) Linking ISSN: 03929078 NLM ISO Abbreviation: J Exp Clin Cancer Res Subsets: MEDLINE

مواضيع طبية MeSH: Colorectal Neoplasms*/drug therapy , Colorectal Neoplasms*/genetics , Neoplastic Cells, Circulating*/metabolism, Biomarkers, Tumor/metabolism ; Epithelial-Mesenchymal Transition/physiology ; Humans ; Organoids/metabolism ; Stem Cells/metabolism

المؤلفون: Kalantari S; Department of Medical Sciences, University of Turin, Turin, Italy., Brezzi B; Nephrology and Dialysis Unit, Azienda Ospedaliera 'SS. Antonio e Biagio e Cesare Arrigo', Alessandria, Italy., Bracciamà V; Department of Medical Sciences, University of Turin, Turin, Italy., Barreca A; Anatomia e Istologia Patologica, Città della Salute e della Scienza University Hospital, Turin, Italy., Nozza P; S.C. Anatomia e Istologia Patologica, Azienda Ospedaliera 'SS. Antonio e Biagio e Cesare Arrigo', Alessandria, Italy., Vaisitti T; Department of Medical Sciences, University of Turin, Turin, Italy., Amoroso A; Department of Medical Sciences, University of Turin, Turin, Italy.; Immunogenetics and Biology of Transplantation, Città della Salute e della Scienza University Hospital, Turin, Italy., Deaglio S; Department of Medical Sciences, University of Turin, Turin, Italy.; Immunogenetics and Biology of Transplantation, Città della Salute e della Scienza University Hospital, Turin, Italy., Manganaro M; Nephrology and Dialysis Unit, Azienda Ospedaliera 'SS. Antonio e Biagio e Cesare Arrigo', Alessandria, Italy., Porta F; Department of Pediatrics, Città della Salute e della Scienza University Hospital, University of Torino, Piazza Polonia 94, 10126, Turin, Italy. francesco.porta@unito.it., Spada M; Department of Pediatrics, Città della Salute e della Scienza University Hospital, University of Torino, Piazza Polonia 94, 10126, Turin, Italy.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Feb 02; Vol. 17 (1), pp. 33. Date of Electronic Publication: 2022 Feb 02.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors*/diagnosis , Amino Acid Metabolism, Inborn Errors*/genetics , Amino Acid Metabolism, Inborn Errors*/therapy , Homocystinuria*/diagnosis , Homocystinuria*/drug therapy , Homocystinuria*/genetics , Vitamin B 12 Deficiency*/diagnosis , Vitamin B 12 Deficiency*/drug therapy , Vitamin B 12 Deficiency*/genetics, Heterozygote ; Humans ; Male ; Middle Aged ; Oxidoreductases/genetics ; Oxidoreductases/therapeutic use ; Vitamin B 12/therapeutic use

المؤلفون: Burlina A; Division of Inherited Metabolic Diseases, Reference Center for Expanded Newborn Screening, DIDAS Servizi Di Diagnostica Integrata, University Hospital Padova, 35128, Padua, Italy., Biasucci G; Maternal and Child Health Department, Pediatrics and Neonatology Unit, Guglielmo da Saliceto Hospital, 29121, Piacenza, Italy. g.biasucci@ausl.pc.it., Carbone MT; Pediatric Division, Metabolic and Rare Diseases, Santobono Pausilipon Hospital, 80122, Naples, Italy., Cazzorla C; Division of Inherited Metabolic Diseases, Reference Center for Expanded Newborn Screening, DIDAS Servizi Di Diagnostica Integrata, University Hospital Padova, 35128, Padua, Italy., Paci S; Paediatric Department, ASST Santi Paolo E Carlo, San Paolo Hospital, University of Milan, 20142, Milan, Italy., Pochiero F; Metabolic and Muscular Unit, A. Meyer Children's Hospital, Florence, Italy., Spada M; Department of Pediatrics, Regina Margherita Children's Hospital, University of Torino, 10126, Turin, Italy., Tummolo A; Metabolic Diseases Department, Clinical Genetics and Diabetology, Giovanni XXIII Children's Hospital, 70126, Bari, Italy., Zuvadelli J; Paediatric Department, ASST Santi Paolo E Carlo, San Paolo Hospital, University of Milan, 20142, Milan, Italy., Leuzzi V; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, University La Sapienza, 00185, Rome, Italy.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Nov 16; Vol. 16 (1), pp. 476. Date of Electronic Publication: 2021 Nov 16.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Systematic Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Phenylalanine Hydroxylase* , Phenylketonurias*, Biopterins/therapeutic use ; Consensus ; Humans ; Italy ; Phenylalanine

المؤلفون: Vaisitti T; Department of Medical Sciences, University of Torino, Via Nizza 52, 10126, Torino, Italy., Peritore D; National Transplant Center, Istituto Superiore Di Sanità, Roma, Italy., Magistroni P; Immunogenetics and Transplant Biology, Azienda Ospedaliera Universitaria Città Della Salute E Della Scienza Di Torino, Torino, Italy., Ricci A; National Transplant Center, Istituto Superiore Di Sanità, Roma, Italy., Lombardini L; National Transplant Center, Istituto Superiore Di Sanità, Roma, Italy., Gringeri E; Hepatobiliary Surgery and Liver Transplantation Unit, Padova University Hospital, Padova, Italy., Catalano S; General Surgery 2U - Liver Transplant Center, Azienda Ospedaliera Universitaria Città Della Salute E Della Scienza Di Torino, University of Turin, Torino, Italy., Spada M; Divison of Hepatobiliopancreatic Surgery, Liver and Kidney Transplantation, Research Unit of Clinical Hepatogastroenterology and Transplantation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Sciveres M; Department of Pediatrics, Ismett, Palermo, Italy., Di Giorgio A; Paediatric Hepatology, Gastroenterology and Transplantation, Papa Giovanni XXIII Hospital, Bergamo, Italy., Limongelli G; Center for Coordination on rare diseases - Regione Campania, Cardiovascular Rare and Genetic Diseases Unit, Department of Cardiology, Monaldi Hospital, AORN Dei Colli,, Naples, Italy., Varrenti M; DeGasperis CardioCenter, Niguarda Great Metropolitan Hospital, Milan, Italy., Gerosa G; Heart Transplantation Unit, Cardio-Thoraco-Vascular Sciences and Public Health Department, University Padova Hospital, Padova, Italy., Terzi A; UOS Transplantation Surgery, Asst Papa Giovanni XXIII Hospital, Bergamo, Italy., Pace Napoleone C; Pediatric Cardiac Surgery and Congenital Cardiopathies Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera Città Della Salute E Della Scienza Di Torino, Turin, Italy., Amodeo A; Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Ragni L; Paediatric Cardiology and ACHD Unit, S. Orsola, Malpighi Hospital, Bologna, Italy., Dello Strologo L; Renal Transplant Unit. Bambino Gesù Children's Research Hospital IRCCS, Rome, Italy., Benetti E; Pediatric Nephrology, Dialysis and Transplant Unit, Department of Women's and Children's Health, Padua University Hospital, Padua, Italy., Fontana I; Azienda Ospedaliera Universitaria San Martino, Genoa, Italy., Testa S; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy., Peruzzi L; Pediatric Nephrology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera Universitaria Città Della Salute E Della Scienza Di Torino, Turin, Italy., Mitrotti A; Azienda Ospedaliera, Universitaria Policlinico Di Bari, Bari, Italy., Abbate S; Department of Pediatrics, Ismett, Palermo, Italy., Comai G; Nephrology, Dialysis and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Gotti E; Unit of Nephrology, Azienda Socio Sanitaria Territoriale Papa Giovanni XXIII, Bergamo, Italy., Schiavon M; Thoracic Surgery and Lung Transplant Unit, Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University Hospital of Padua, Padua, Italy., Boffini M; Heart and Lung Transplant Center, Cardiac Surgery Division, Surgical Sciences Department, University of Torino, Torino, Italy., De Angelis D; Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Bertani A; Division of Thoracic Surgery and Lung Transplantation, Department for the Treatment and Study of Cardiothoracic Diseases and Cardiothoracic Transplantation, IRCCS-ISMETT, Palermo, Italy., Pinelli D; Department of Organ Failure and Transplantation, ASST Giovanni XXIII, Bergamo, Italy., Torre M; Ospedale Maggiore Policlinico, Milan, Italy., Poggi C; Department of Thoracic Surgery, Policlinico Umberto I Hospital, University of Rome Sapienza, Rome, Italy., Deaglio S; Department of Medical Sciences, University of Torino, Via Nizza 52, 10126, Torino, Italy. silvia.deaglio@unito.it.; Immunogenetics and Transplant Biology, Azienda Ospedaliera Universitaria Città Della Salute E Della Scienza Di Torino, Torino, Italy. silvia.deaglio@unito.it., Cardillo M; National Transplant Center, Istituto Superiore Di Sanità, Roma, Italy., Amoroso A; Department of Medical Sciences, University of Torino, Via Nizza 52, 10126, Torino, Italy.; Immunogenetics and Transplant Biology, Azienda Ospedaliera Universitaria Città Della Salute E Della Scienza Di Torino, Torino, Italy.

مؤلفون مشاركون: Italian Pediatric Transplant Centers

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Sep 04; Vol. 16 (1), pp. 374. Date of Electronic Publication: 2021 Sep 04.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Kidney Transplantation* , Organ Transplantation*, Child ; Humans ; Italy ; Quality of Life ; Registries ; Transplant Recipients

المؤلفون: Di Rocco M; Unit of Rare Diseases, Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini 3, 16147, Genoa, Italy. Majadirocco@gaslini.org., Di Fonzo A; Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan Neurology Unit, Milan, Italy. alessio.difonzo@policlinico.mi.it., Barbato A; Department of Clinical Medicine and Surgery, 'Federico II' University Hospital, Naples, Italy., Cappellini MD; Department of Medical Science and Community, University of Milan, Milan, Italy., Carubbi F; Regional Referral Centre for Lysosomal Storage Diseases, Division of Internal Medicine and Metabolism, Civil Hospital, AOU of Modena, University of Modena and Reggio Emilia, Modena, Italy., Giona F; Department of Translational and Precision Medicine, Sapienza University, Rome, Italy., Giuffrida G; Regional Reference Center for Rare Diseases, Clinical Division of Haematology and Transplantation, PO Ferrarotto Hospital, Azienda Ospedaliera-Universitaria Policlinico-Vittorio Emanuele, Catania, Italy., Linari S; Center for Bleeding Disorders and Coagulation, Careggi University Hospital, Florence, Italy., Pession A; Pediatric Unit, Department of Medical and Surgical Sciences, S. Orsola Hospital, University of Bologna, Bologna, Italy., Quarta A; Center for Microcythemia, Iron Metabolism disorders, Gaucher disease-Hematology and Transplantation Unit, 'A. Perrino' Hospital, Brindisi, Italy., Scarpa M; Regional Coordinating Center for Rare Disease, University Hospital of Udine, Udine, Italy., Spada M; Department of Pediatrics, AOU Città della Salute e della Scienza di Torino, University of Torino, Torino, Italy., Strisciuglio P; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, 80131, Naples, Italy., Andria G; Professor Emeritus 'Federico II' University Hospital, Naples, Italy.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Sep 23; Vol. 15 (1), pp. 262. Date of Electronic Publication: 2020 Sep 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Counseling* , Gaucher Disease*/complications , Gaucher Disease*/genetics , Parkinson Disease*/complications, Adult ; Child ; Family Health ; Glucosylceramidase/genetics ; Humans ; Quality of Life

المؤلفون: Donati MA; Metabolic and Muscular Unit, Regional Reference Centre Expanded Newborn Screening, Meyer Children Hospital, Florence, Italy., Pasquini E; Metabolic and Muscular Unit, Regional Reference Centre Expanded Newborn Screening, Meyer Children Hospital, Florence, Italy., Spada M; Department of Pediatrics, Ospedale Regina Margherita, P.zza Polonia, 94, 10126, Torino, Italy., Polo G; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Via Orus 2/B, 35129, Padova, Italy., Burlina A; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Via Orus 2/B, 35129, Padova, Italy. alberto.burlina@unipd.it.

المصدر: Italian journal of pediatrics [Ital J Pediatr] 2019 Jun 11; Vol. 45 (1), pp. 71. Date of Electronic Publication: 2019 Jun 11.

نوع المنشور: Journal Article; Published Erratum

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288 (Electronic) Linking ISSN: 17208424 NLM ISO Abbreviation: Ital J Pediatr Subsets: PubMed not MEDLINE

المؤلفون: Donati MA; Metabolic and Muscular Unit, Regional Reference Centre Expanded Newborn Screening, Meyer Children Hospital, Florence, Italy., Pasquini E; Metabolic and Muscular Unit, Regional Reference Centre Expanded Newborn Screening, Meyer Children Hospital, Florence, Italy., Spada M; Department of Pediatrics, Ospedale Regina Margherita, P.zza Polonia, 94, 10126, Torino, Italy., Polo G; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Via Orus 2/B, 35129, Padova, Italy., Burlina A; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Via Orus 2/B, 35129, Padova, Italy. alberto.burlina@unipd.it.

المصدر: Italian journal of pediatrics [Ital J Pediatr] 2018 Nov 16; Vol. 44 (Suppl 2), pp. 126. Date of Electronic Publication: 2018 Nov 16.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288 (Electronic) Linking ISSN: 17208424 NLM ISO Abbreviation: Ital J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Neonatal Screening*, Mucopolysaccharidosis I/*diagnosis, Humans ; Infant, Newborn ; Predictive Value of Tests

المؤلفون: Parini R; Pediatric Rare Diseases Unit, Department of Pediatrics, MBBM Foundation, ATS Monza e Brianza, Via Pergolesi 33, 20900, Monza, Italy. rossella.parini@unimib.it., De Lorenzo P; Centre of Biostatistics for Clinical Epidemiology, School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy., Dardis A; Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy., Burlina A; Department for Women and Children's Health, U.O.C. Inborn Metabolic Diseases, University Hospital, Padova, Italy., Cassio A; Department of Pediatrics, University of Bologna, Bologna, Italy., Cavarzere P; Department of Pediatrics, University Magna Graecia, Catanzaro, Italy., Concolino D; Department of Pediatrics, University Magna Graecia, Catanzaro, Italy., Della Casa R; Department of Translational Sciences, Pediatrics, University Federico II, Naples, Italy., Deodato F; Division of Metabolism Bambino Gesù Children's Hospital, Rome, Italy., Donati MA; Department of Pediatrics, Meyer Children's Hospital, Metabolic and Muscular Unit, University of Firenze, Florence, Italy., Fiumara A; Department of Clinical and Experimental Medicine, Metabolic Diseases, Pediatric Clinic, University of Catania, Catania, Italy., Gasperini S; Pediatric Rare Diseases Unit, Department of Pediatrics, MBBM Foundation, ATS Monza e Brianza, Via Pergolesi 33, 20900, Monza, Italy., Menni F; Department of Pathophysiology and Transplantation, Pediatric Highly Intensive Care Unit, University of Milano, IRCCS Ca' Granda Ospedale Maggiore Policlinico Foundation, Milan, Italy., Pagliardini V; Department of Pediatrics, University of Torino, Torino, Italy., Sacchini M; Department of Pediatrics, Meyer Children's Hospital, Metabolic and Muscular Unit, University of Firenze, Florence, Italy., Spada M; Department of Pediatrics, University of Torino, Torino, Italy., Taurisano R; Division of Metabolism Bambino Gesù Children's Hospital, Rome, Italy., Valsecchi MG; Centre of Biostatistics for Clinical Epidemiology, School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy., Di Rocco M; Rare Diseases Unit, Pediatric Hospital Istituto Giannina Gaslini, Genoa, Italy., Bembi B; Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Feb 08; Vol. 13 (1), pp. 32. Date of Electronic Publication: 2018 Feb 08.

نوع المنشور: Journal Article; Multicenter Study; Observational Study

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type II/*drug therapy , alpha-Glucosidases/*therapeutic use, Child, Preschool ; Cohort Studies ; Female ; Humans ; Infant ; Italy ; Male ; Recombinant Proteins ; Retrospective Studies ; alpha-Glucosidases/administration & dosage