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Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy

Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.763-780

2011

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FDR, an easier way to NNLO calculations: a two-loop case study

The European physical journal. C, Particles and fields, 2014-05, Vol.74 (5), p.1-19, Article 2864

2014

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Newborn screening in mucopolysaccharidoses

Italian journal of pediatrics, 2018-11, Vol.44 (Suppl 2), p.126-126, Article 126

2018

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Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Human molecular genetics, 2017-11, Vol.26 (21), p.4257-4266

2017

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Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders

Orphanet journal of rare diseases, 2020-07, Vol.15 (1), p.1-196, Article 196

2020

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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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SARS-CoV-2 infection in a patient with propionic acidemia

Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.306-306, Article 306

2020

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Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.197-197, Article 197

2023

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Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

Journal of neurology, 2012-12, Vol.259 (12), p.2699-2706

2012

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A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG)

Clinical chemistry and laboratory medicine, 2020-08, Vol.59 (1), p.165-171

2020

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Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias

Orphanet journal of rare diseases, 2018-06, Vol.13 (1), p.97-97, Article 97

2018

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Advances in Stem Cell Modeling of Dystrophin-Associated Disease: Implications for the Wider World of Dilated Cardiomyopathy

Frontiers in physiology, 2020-05, Vol.11, p.368-368

2020

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Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel

Italian journal of pediatrics, 2022-03, Vol.48 (1), p.41-41, Article 41

2022

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Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature

International journal of molecular sciences, 2018-01, Vol.19 (2), p.345

2018

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Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction

BMC medical genomics, 2021-06, Vol.14 (1), p.157-6, Article 157

2021

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Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study

Frontiers in pharmacology, 2022-05, Vol.13, p.869842

2022

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Galactosialidosis: review and analysis of CTSA gene mutations

Orphanet journal of rare diseases, 2013-08, Vol.8 (1), p.114-114, Article 114

2013

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High frequency of biotinidase deficiency in Italian population identified by newborn screening

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100689-100689, Article 100689

2020

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Persistent pulmonary arterial hypertension in the newborn (PPHN): A frequent manifestation of TMEM70 defective patients

Molecular genetics and metabolism, 2014-03, Vol.111 (3), p.353-359

2014

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Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature

Molecular genetics and metabolism reports, 2021-03, Vol.26, p.100714, Article 100714

2021

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Correction to: Newborn screening in mucopolysaccharidoses

Italian journal of pediatrics, 2019-06, Vol.45 (1), p.71-71, Article 71

2019

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Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report

Italian journal of pediatrics, 2018-08, Vol.44 (1), p.90-90, Article 90

2018

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Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

Nature genetics, 1998-04, Vol.18 (4), p.365-368

1998

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New clinical and molecular insights on Barth syndrome

Orphanet journal of rare diseases, 2013-02, Vol.8 (1), p.27-27, Article 27

2013

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De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack

Journal of stroke and cerebrovascular diseases, 2015-11, Vol.24 (11), p.2588-2595

2015

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Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy

FDR, an easier way to NNLO calculations: a two-loop case study

Newborn screening in mucopolysaccharidoses

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders

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

SARS-CoV-2 infection in a patient with propionic acidemia

Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG)

Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias

Advances in Stem Cell Modeling of Dystrophin-Associated Disease: Implications for the Wider World of Dilated Cardiomyopathy

Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature

Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction

Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study

Galactosialidosis: review and analysis of CTSA gene mutations

High frequency of biotinidase deficiency in Italian population identified by newborn screening

Persistent pulmonary arterial hypertension in the newborn (PPHN): A frequent manifestation of TMEM70 defective patients

Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature

Correction to: Newborn screening in mucopolysaccharidoses

Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

New clinical and molecular insights on Barth syndrome

De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack

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