| Nome |
# |
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Werner syndrome: a rare mutation, file cfd46c08-d14f-4edd-aac3-3570a1346992
|
14
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The role of prebiotics and probiotics in Prevention of Allergic Diseases in Infants, file 101e84c2-c7e5-4a5a-82a4-5e0a55d6c1cc
|
11
|
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Genetic variants associated with gastrointestinal symptoms in Fabry disease., file de164cb3-b8e0-6b31-e053-1705fe0a395c
|
11
|
|
Parapelvic cysts, a distinguishing feature of renal Fabry disease., file de164cb3-ba79-6b31-e053-1705fe0a395c
|
8
|
|
Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group., file de164cb3-bfd1-6b31-e053-1705fe0a395c
|
8
|
|
Norrbottnian clinical variant of Gaucher disease in Southern Italy., file de164cb3-c149-6b31-e053-1705fe0a395c
|
8
|
|
Oxidative stress biomarkers in Fabry disease: is there a room for them?, file de164cb4-7a78-6b31-e053-1705fe0a395c
|
8
|
|
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
|
7
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Cardiac involvement in Lysosomal Storage Diseases, file 701c428b-e3a0-4f32-b90c-54a0d9f07fde
|
6
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|
Profile of idursulfase for the treatment of Hunter syndrome, file de164cb3-bcd3-6b31-e053-1705fe0a395c
|
6
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Postinfectious Functional Gastrointestinal Disorders in Children: A Multicenter Prospective Study, file de164cb3-bdcc-6b31-e053-1705fe0a395c
|
6
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|
Gastrointestinal Symptoms of Patients with Fabry Disease, file de164cb3-bf4a-6b31-e053-1705fe0a395c
|
6
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|
Anderson-Fabry Disease in children., file de164cb3-cbdc-6b31-e053-1705fe0a395c
|
6
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|
Overlap between functional abdominal pain disorders and organic diseases in children, file de164cb3-ebcb-6b31-e053-1705fe0a395c
|
6
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|
Endocrine system involvement in patients with RASopathies: A case series, file ed3af947-4154-401d-b25e-94ea67f6253a
|
6
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Evolution of congenital hypothyroidism in a cohort of preterm born children, file 4d8c9985-041f-421e-a763-37da2ad5b61c
|
5
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|
Infectious diseases and metabolic emergencies in inborn errors of metabolism, file 9e29830a-919e-447b-994f-b7046bde4aa3
|
5
|
|
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
|
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
|
5
|
|
Renal involvement in paediatric Fabry disease, file db21eb67-715f-4632-a5c1-3ca5726d52eb
|
5
|
|
Low FODMAPs diet for functional abdominal pain disorders in children: critical review of current knowledge., file de164cb4-26f6-6b31-e053-1705fe0a395c
|
5
|
|
Prevalence of elevated pulmonary artery systolic pressure in Down Syndrome young patients with and without congenital heart disease, file f07a31ee-213f-4206-adec-55ba50a7097c
|
5
|
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Dilated cardiomyopathy in mucolipidosis type 2, file 013fd96b-df17-42fc-bfa3-e55f905fb7ea
|
4
|
|
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study, file 09ee1dc6-3b4f-4f18-a7cc-e1221a9790f3
|
4
|
|
Preterm Patent Ductus Arteriosus: controversies overview, file 227f3f9c-c9ba-4348-ba2a-cdb95770c7eb
|
4
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|
Anderson-Fabry disease in children: The importance of early diagnosis, file 2595a138-f3d9-49e7-9fa1-7189a7b37e58
|
4
|
|
Congenital heart disease in Down Syndrome, file 26915aef-3f40-48df-9d4f-aa5634ae542f
|
4
|
|
The heart in Anderson-Fabry disease, file 58bf59f7-0d18-4e2e-808a-78e661439ab3
|
4
|
|
Fever of unknown origin, file 9e5c82e4-8b3f-46cb-923a-9c5822f442ef
|
4
|
|
Cardiac malformations in children with congenital hypothyroidism, file cf9b1700-23bc-452f-a5be-24de9589211a
|
4
|
|
The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review, file de164cb3-c05c-6b31-e053-1705fe0a395c
|
4
|
|
Pathobiological Insights into the Newly Targeted Therapies of Lysosomal Storage Disorders, file de164cb3-c203-6b31-e053-1705fe0a395c
|
4
|
|
Beneficial effects of slow-release large neutral amino acids after a phenylalanine oral load in patients with phenylketonuria, file de164cb4-6a55-6b31-e053-1705fe0a395c
|
4
|
|
Genetic variants associated with Fabry disease progression despite enzyme replacement therapy, file e3b71344-58a2-47e0-974a-4babd2ef1cc0
|
4
|
|
Alport's syndrome, file eb18162c-5025-4e87-ad5b-b45ee248c042
|
4
|
|
Impact of COVID-19 on the management of patients with Lysosomal Storage Disorders, file fb34ed04-692d-4e3c-87c7-1445f7467906
|
4
|
|
Extreme hyperferritinemia in the pediatric emergency setting: haemophagocytic lymphohistiocytosis, macrophage activation syndrome, sepsis and more, file fff00dd6-6885-4202-adbc-41ba97fbc277
|
4
|
|
Novel serum biomarkers for infection in paediatric emergency, file 4f1c770a-e921-4e73-89cb-60f003ef7099
|
3
|
|
Kawa-COVID-19, file 537632ee-f4a3-47aa-8904-fef4f0dcae3f
|
3
|
|
Neuronopathic Gaucher Disease., file 62c9310a-dd68-421d-b635-862ba8e9f92b
|
3
|
|
Infective endocarditis in children: state of the art, file 68e92ab5-dce0-4b18-8a54-b434af68ddaf
|
3
|
|
Management of croup in children, file 6c44a9a1-ad49-49e7-b97a-f1fe5f830c7d
|
3
|
|
Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome, file aa86b6c6-01ff-454d-be98-cc997806ebb1
|
3
|
|
KBG syndrome: case report of a novel variant
ANKR11 gene mutation and literature review., file b148de62-56fe-4c65-ae08-ca7e6a6c87a8
|
3
|
|
Neurological Findings in Anderson-Fabry Disease (Review, file de164cb3-b931-6b31-e053-1705fe0a395c
|
3
|
|
Neurological Involvement in Inherited Metabolic Diseases: An Overview, file de164cb3-c202-6b31-e053-1705fe0a395c
|
3
|
|
Cow's Milk Protein Allergy in Infancy: A Risk Factor for Functional Gastrointestinal Disorders in Children?, file de164cb3-c55e-6b31-e053-1705fe0a395c
|
3
|
|
Urine bikunin as a marker of renal impairment in Fabry's disease., file de164cb3-cb23-6b31-e053-1705fe0a395c
|
3
|
|
Genetic variants associated with Fabry disease progression despite enzyme replacement therapy. (IF 5.168), file de164cb3-cd62-6b31-e053-1705fe0a395c
|
3
|
|
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
|
3
|
|
Update on hyperuricemia in children / Inquadramento dell’iperuricemia in età pediatrica, file eb8e8405-981b-4efa-9a52-18be052fd60b
|
3
|
|
Clinical manifestation of Congenital Ocular Toxoplasmosis, file fd5af43c-f81d-476a-ae00-5d0edae13b39
|
3
|
|
Cardiovascular complications in children with chronic kidney injury, file 05a6980c-3601-404e-9030-5ebc4630b18e
|
2
|
|
Pediatric urolithiasis, file cf710e57-928f-430f-8d61-11758d4ccc21
|
2
|
|
Mitochondrial DNA haplogroups may influence Fabry disease phenotype., file de164cb3-b8e1-6b31-e053-1705fe0a395c
|
2
|
|
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
|
2
|
|
Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report, file de164cb3-c135-6b31-e053-1705fe0a395c
|
2
|
|
The Cytoscan HD Array in the Diagnosis of
Neurodevelopmental Disorders, file de164cb3-c755-6b31-e053-1705fe0a395c
|
2
|
|
The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview, file de164cb3-cea2-6b31-e053-1705fe0a395c
|
2
|
|
Pathobiological Insights into Neurological Involvement in Cobalamin C Deficiency, file de164cb3-d107-6b31-e053-1705fe0a395c
|
2
|
|
Functional abdominal pain, file de164cb3-d1f3-6b31-e053-1705fe0a395c
|
2
|
|
Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report, file de164cb3-d3ce-6b31-e053-1705fe0a395c
|
2
|
|
Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group., file de164cb3-f457-6b31-e053-1705fe0a395c
|
2
|
|
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity, file de164cb4-78f9-6b31-e053-1705fe0a395c
|
2
|
|
Unusual presentation of Henoch-Schönlein purpura, file ec7e924f-053f-40aa-8b92-ea685248c89e
|
2
|
|
null, file 8bdd587a-478a-4702-9c9b-d4f56afb4cbf
|
1
|
|
Mind the gut: probiotics in paediatric neurogastroenterology., file de164cb3-bc1e-6b31-e053-1705fe0a395c
|
1
|
|
RESISTANCE TO THYROID HORMONE DUE TO A NOVEL THR- MUTATION IN A PATIENT
WITH THYROID AGENESIS, file de164cb3-c56c-6b31-e053-1705fe0a395c
|
1
|
|
Home treatment in paediatric patients with Hunter syndrome: the first Italian experience, file de164cb3-c9be-6b31-e053-1705fe0a395c
|
1
|
|
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype., file de164cb3-cfcf-6b31-e053-1705fe0a395c
|
1
|
|
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
|
1
|
|
Fabry disease and kidney involvement: starting from childhood to understand the future, file de164cb4-67ad-6b31-e053-1705fe0a395c
|
1
|
|
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel, file de164cb4-7395-6b31-e053-1705fe0a395c
|
1
|
| Totale |
291 |