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Nutritional Challenges in Duchenne Muscular Dystrophy

Nutrients, 2017-06, Vol.9 (6), p.594

2017

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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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Pseudotumour cerebri associated with mycoplasma pneumoniae infection and treatment with levofloxacin: a case report

BMC pediatrics, 2019-01, Vol.19 (1), p.4-4, Article 4

2019

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Severe vitamin B12 deficiency in an exclusively breastfed 5-month-old Italian infant born to a mother receiving multivitamin supplementation during pregnancy

BMC pediatrics, 2012-06, Vol.12 (1), p.85-85, Article 85

2012

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Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria

Pediatric nephrology (Berlin, West), 2012-08, Vol.27 (8), p.1401-1405

2012

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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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A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy

European journal of human genetics : EJHG, 2023-12, Vol.31 (12), p.1414-1420

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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Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth

Human genetics, 2017-10, Vol.136 (10), p.1329-1339

2017

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Is it time to change the neurofibromatosis 1 diagnostic criteria?

European journal of internal medicine, 2014-07, Vol.25 (6), p.506-510

2014

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A multidisciplinary approach in neurofibromatosis 1

Lancet neurology, 2015, Vol.14 (1), p.29-30

2015

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Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.916-925

2021

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Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report

Pediatric blood & cancer, 2016-03, Vol.63 (3), p.572-573

2016

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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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Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium

The lancet child & adolescent health, 2022-01, Vol.6 (1), p.28-37

2022

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Think About It: FMR1 Gene Mosaicism

Journal of child neurology, 2014-09, Vol.29 (9), p.NP74-NP77

2014

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Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams-beuren syndrome

American journal of medical genetics. Part A, 2013-07, Vol.161A (7), p.1666-1674

2013

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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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PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations

Clinical epigenetics, 2021-07, Vol.13 (1), p.137-137, Article 137

2021

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Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients

Journal of hepatology, 2009-01, Vol.50 (1), p.215-221

2009

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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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Combined liver‐kidney transplantation in glycogen storage disease Ia: A case beyond the guidelines

Liver transplantation, 2007-05, Vol.13 (5), p.762-764

2007

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Nutritional Challenges in Duchenne Muscular Dystrophy

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

Pseudotumour cerebri associated with mycoplasma pneumoniae infection and treatment with levofloxacin: a case report

Severe vitamin B12 deficiency in an exclusively breastfed 5-month-old Italian infant born to a mother receiving multivitamin supplementation during pregnancy

Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria

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

A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy

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

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth

Is it time to change the neurofibromatosis 1 diagnostic criteria?

A multidisciplinary approach in neurofibromatosis 1

Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?

Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report

Treatment of Neurofibromatosis Type 1

Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium

Think About It: FMR1 Gene Mosaicism

Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams-beuren syndrome

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

PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome

Combined liver‐kidney transplantation in glycogen storage disease Ia: A case beyond the guidelines

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