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Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

Orphanet journal of rare diseases, 2018-02, Vol.13 (1), p.32-32, Article 32

2018

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CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia

Italian journal of pediatrics, 2022-08, Vol.48 (1), p.1-154, Article 154

2022

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Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement

Frontiers in neurology, 2020-11, Vol.11, p.569153-569153

2020

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Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome

Case reports in pediatrics, 2017-01, Vol.2017, p.2794060-4

2017

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Parents' experience of the communication process of positivity at newborn screening for metabolic diseases: A qualitative study

Child : care, health & development, 2023-11, Vol.49 (6), p.961-971

2023

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Hyperammonemia Syndrome After Lung Transplantation: A Double-Hit Fatal Syndrome. A Case Report

Transplantation proceedings, 2023-10, Vol.55 (8), p.1991-1994

2023

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Treatment of Neurofibromatosis Type 1

Current treatment options in neurology, 2015-06, Vol.17 (6), p.355-355, Article 26

2015

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Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome

Journal of human genetics, 2018-03, Vol.63 (3), p.391-391

2018

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Deoxyguanosine kinase deficiency: natural history and liver transplant outcome

Brain communications, 2024, Vol.6 (3), p.fcae160-fcae160

2024

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Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

JIMD Reports, Volume 15, 2015, Vol.15, p.71-78

2015

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Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report

Pediatric blood & cancer, 2016, Vol.63 (3), p.572-573

2016

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Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome

Case reports in pediatrics, 2017, Vol.2017, p.2794060-2794060

2017

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Immunogenicity, safety and tolerability of monovalent 2009 pandemic influenza A/H1N1 MF59-adjuvanted vaccine in children and adolescents with Williams or Cornelia De Lange syndrome

Human Vaccines, 2011, Vol.7 (6), p.613-617

2011

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Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome

American Journal of Medical Genetics Part A, 2009, Vol.149A (11), p.2532-2537

2009

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Cross-sectional analyses of metabolites across biological samples mediating dietary acid load and chronic kidney disease

iScience, 2024-03, Vol.27 (3), p.109132-109132, Article 109132

2024

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Acute Rheumatic Fever: Where Do We Stand? An Epidemiological Study in Northern Italy

Frontiers in medicine, 2021-02, Vol.8, p.621668-621668

2021

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Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia

Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement

Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome

Parents' experience of the communication process of positivity at newborn screening for metabolic diseases: A qualitative study

Hyperammonemia Syndrome After Lung Transplantation: A Double-Hit Fatal Syndrome. A Case Report

Treatment of Neurofibromatosis Type 1

Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report

Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome

Immunogenicity, safety and tolerability of monovalent 2009 pandemic influenza A/H1N1 MF59-adjuvanted vaccine in children and adolescents with Williams or Cornelia De Lange syndrome

Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome

Cross-sectional analyses of metabolites across biological samples mediating dietary acid load and chronic kidney disease

Acute Rheumatic Fever: Where Do We Stand? An Epidemiological Study in Northern Italy

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