Nome |
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Werner syndrome: a rare mutation, file cfd46c08-d14f-4edd-aac3-3570a1346992
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14
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The role of prebiotics and probiotics in Prevention of Allergic Diseases in Infants, file 101e84c2-c7e5-4a5a-82a4-5e0a55d6c1cc
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11
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Genetic variants associated with gastrointestinal symptoms in Fabry disease., file de164cb3-b8e0-6b31-e053-1705fe0a395c
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11
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Parapelvic cysts, a distinguishing feature of renal Fabry disease., file de164cb3-ba79-6b31-e053-1705fe0a395c
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8
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Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group., file de164cb3-bfd1-6b31-e053-1705fe0a395c
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8
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Norrbottnian clinical variant of Gaucher disease in Southern Italy., file de164cb3-c149-6b31-e053-1705fe0a395c
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8
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Oxidative stress biomarkers in Fabry disease: is there a room for them?, file de164cb4-7a78-6b31-e053-1705fe0a395c
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8
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A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature., file 53e0ff3b-33fc-46e4-a749-506baf31a45b
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7
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Cardiac involvement in Lysosomal Storage Diseases, file 701c428b-e3a0-4f32-b90c-54a0d9f07fde
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6
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Profile of idursulfase for the treatment of Hunter syndrome, file de164cb3-bcd3-6b31-e053-1705fe0a395c
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6
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Postinfectious Functional Gastrointestinal Disorders in Children: A Multicenter Prospective Study, file de164cb3-bdcc-6b31-e053-1705fe0a395c
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6
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Gastrointestinal Symptoms of Patients with Fabry Disease, file de164cb3-bf4a-6b31-e053-1705fe0a395c
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6
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Anderson-Fabry Disease in children., file de164cb3-cbdc-6b31-e053-1705fe0a395c
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6
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Overlap between functional abdominal pain disorders and organic diseases in children, file de164cb3-ebcb-6b31-e053-1705fe0a395c
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6
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Endocrine system involvement in patients with RASopathies: A case series, file ed3af947-4154-401d-b25e-94ea67f6253a
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6
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Evolution of congenital hypothyroidism in a cohort of preterm born children, file 4d8c9985-041f-421e-a763-37da2ad5b61c
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5
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Infectious diseases and metabolic emergencies in inborn errors of metabolism, file 9e29830a-919e-447b-994f-b7046bde4aa3
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5
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Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings., file a097a58e-9228-49f4-9c4f-0558ff4fd9bd
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5
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Therapeutic afucosylated monoclonal antibody and bispecific T-cell engagers for T-cell acute lymphoblastic leukemia, file bd2fc93e-50af-4405-b3db-9d6b41d3786a
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5
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Renal involvement in paediatric Fabry disease, file db21eb67-715f-4632-a5c1-3ca5726d52eb
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5
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Low FODMAPs diet for functional abdominal pain disorders in children: critical review of current knowledge., file de164cb4-26f6-6b31-e053-1705fe0a395c
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5
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Prevalence of elevated pulmonary artery systolic pressure in Down Syndrome young patients with and without congenital heart disease, file f07a31ee-213f-4206-adec-55ba50a7097c
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5
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Dilated cardiomyopathy in mucolipidosis type 2, file 013fd96b-df17-42fc-bfa3-e55f905fb7ea
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4
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Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study, file 09ee1dc6-3b4f-4f18-a7cc-e1221a9790f3
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4
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Preterm Patent Ductus Arteriosus: controversies overview, file 227f3f9c-c9ba-4348-ba2a-cdb95770c7eb
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4
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Anderson-Fabry disease in children: The importance of early diagnosis, file 2595a138-f3d9-49e7-9fa1-7189a7b37e58
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4
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Congenital heart disease in Down Syndrome, file 26915aef-3f40-48df-9d4f-aa5634ae542f
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4
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The heart in Anderson-Fabry disease, file 58bf59f7-0d18-4e2e-808a-78e661439ab3
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4
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Fever of unknown origin, file 9e5c82e4-8b3f-46cb-923a-9c5822f442ef
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4
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Cardiac malformations in children with congenital hypothyroidism, file cf9b1700-23bc-452f-a5be-24de9589211a
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4
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The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review, file de164cb3-c05c-6b31-e053-1705fe0a395c
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4
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Pathobiological Insights into the Newly Targeted Therapies of Lysosomal Storage Disorders, file de164cb3-c203-6b31-e053-1705fe0a395c
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4
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Beneficial effects of slow-release large neutral amino acids after a phenylalanine oral load in patients with phenylketonuria, file de164cb4-6a55-6b31-e053-1705fe0a395c
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4
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Genetic variants associated with Fabry disease progression despite enzyme replacement therapy, file e3b71344-58a2-47e0-974a-4babd2ef1cc0
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4
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Alport's syndrome, file eb18162c-5025-4e87-ad5b-b45ee248c042
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4
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Impact of COVID-19 on the management of patients with Lysosomal Storage Disorders, file fb34ed04-692d-4e3c-87c7-1445f7467906
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4
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Extreme hyperferritinemia in the pediatric emergency setting: haemophagocytic lymphohistiocytosis, macrophage activation syndrome, sepsis and more, file fff00dd6-6885-4202-adbc-41ba97fbc277
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4
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Novel serum biomarkers for infection in paediatric emergency, file 4f1c770a-e921-4e73-89cb-60f003ef7099
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3
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Kawa-COVID-19, file 537632ee-f4a3-47aa-8904-fef4f0dcae3f
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3
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Neuronopathic Gaucher Disease., file 62c9310a-dd68-421d-b635-862ba8e9f92b
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3
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Infective endocarditis in children: state of the art, file 68e92ab5-dce0-4b18-8a54-b434af68ddaf
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3
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Management of croup in children, file 6c44a9a1-ad49-49e7-b97a-f1fe5f830c7d
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3
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Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome, file aa86b6c6-01ff-454d-be98-cc997806ebb1
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3
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KBG syndrome: case report of a novel variant
ANKR11 gene mutation and literature review., file b148de62-56fe-4c65-ae08-ca7e6a6c87a8
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3
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Neurological Findings in Anderson-Fabry Disease (Review, file de164cb3-b931-6b31-e053-1705fe0a395c
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3
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Neurological Involvement in Inherited Metabolic Diseases: An Overview, file de164cb3-c202-6b31-e053-1705fe0a395c
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3
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Cow's Milk Protein Allergy in Infancy: A Risk Factor for Functional Gastrointestinal Disorders in Children?, file de164cb3-c55e-6b31-e053-1705fe0a395c
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3
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Urine bikunin as a marker of renal impairment in Fabry's disease., file de164cb3-cb23-6b31-e053-1705fe0a395c
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3
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Genetic variants associated with Fabry disease progression despite enzyme replacement therapy. (IF 5.168), file de164cb3-cd62-6b31-e053-1705fe0a395c
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3
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Clericuzio type Poikiloderma with Neutropenia Syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the Phenotype, file de164cb3-d50c-6b31-e053-1705fe0a395c
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3
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Update on hyperuricemia in children / Inquadramento dell’iperuricemia in età pediatrica, file eb8e8405-981b-4efa-9a52-18be052fd60b
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3
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Clinical manifestation of Congenital Ocular Toxoplasmosis, file fd5af43c-f81d-476a-ae00-5d0edae13b39
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3
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Cardiovascular complications in children with chronic kidney injury, file 05a6980c-3601-404e-9030-5ebc4630b18e
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2
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Pediatric urolithiasis, file cf710e57-928f-430f-8d61-11758d4ccc21
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2
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Mitochondrial DNA haplogroups may influence Fabry disease phenotype., file de164cb3-b8e1-6b31-e053-1705fe0a395c
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2
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Long-term treatment with recombinant insulin-like growth factor 1 (IGF-1) in a child with IGF-1 gene mutation. (IF 1.879), file de164cb3-bf01-6b31-e053-1705fe0a395c
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2
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Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report, file de164cb3-c135-6b31-e053-1705fe0a395c
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2
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The Cytoscan HD Array in the Diagnosis of
Neurodevelopmental Disorders, file de164cb3-c755-6b31-e053-1705fe0a395c
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2
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The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview, file de164cb3-cea2-6b31-e053-1705fe0a395c
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2
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Pathobiological Insights into Neurological Involvement in Cobalamin C Deficiency, file de164cb3-d107-6b31-e053-1705fe0a395c
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2
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Functional abdominal pain, file de164cb3-d1f3-6b31-e053-1705fe0a395c
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2
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Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report, file de164cb3-d3ce-6b31-e053-1705fe0a395c
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2
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Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group., file de164cb3-f457-6b31-e053-1705fe0a395c
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2
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Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity, file de164cb4-78f9-6b31-e053-1705fe0a395c
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2
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Unusual presentation of Henoch-Schönlein purpura, file ec7e924f-053f-40aa-8b92-ea685248c89e
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2
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null, file 8bdd587a-478a-4702-9c9b-d4f56afb4cbf
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1
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Mind the gut: probiotics in paediatric neurogastroenterology., file de164cb3-bc1e-6b31-e053-1705fe0a395c
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1
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RESISTANCE TO THYROID HORMONE DUE TO A NOVEL THR- MUTATION IN A PATIENT
WITH THYROID AGENESIS, file de164cb3-c56c-6b31-e053-1705fe0a395c
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1
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Home treatment in paediatric patients with Hunter syndrome: the first Italian experience, file de164cb3-c9be-6b31-e053-1705fe0a395c
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1
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A de novo 8q22.2-24.3 duplication in a patient with mild phenotype., file de164cb3-cfcf-6b31-e053-1705fe0a395c
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1
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Epilepsy, electroclinical features, and long-term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene, file de164cb4-6476-6b31-e053-1705fe0a395c
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1
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Fabry disease and kidney involvement: starting from childhood to understand the future, file de164cb4-67ad-6b31-e053-1705fe0a395c
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1
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Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel, file de164cb4-7395-6b31-e053-1705fe0a395c
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1
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Totale |
291 |