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Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy

Orphanet journal of rare diseases, 2023-11, Vol.18 (1), p.1-358, Article 358

2023

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The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria

Nutrients, 2020-07, Vol.12 (7), p.2078

2020

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Large Neutral Amino Acid Therapy Increases Tyrosine Levels in Adult Patients with Phenylketonuria: A Long-Term Study

Nutrients, 2019-10, Vol.11 (10), p.2541

2019

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Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy

International journal of neonatal screening, 2019-06, Vol.5 (2), p.24-24

2019

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Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient

Journal of clinical medicine, 2023-03, Vol.12 (6), p.2365

2023

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A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature

Molecular genetics and metabolism reports, 2022-06, Vol.31, p.100878-100878, Article 100878

2022

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Newborn screening for Pompe disease in Italy: Long-term results and future challenges

Molecular genetics and metabolism reports, 2022-12, Vol.33, p.100929-100929, Article 100929

2022

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Newborn Screening for Fabry Disease: Current Status of Knowledge

International journal of neonatal screening, 2023-06, Vol.9 (2), p.31

2023

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Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy

International journal of neonatal screening, 2023-12, Vol.10 (1), p.3

2023

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Non‐Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression

JIMD reports, 2024-03, Vol.65 (2), p.56-62

2024

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Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature

International journal of neonatal screening, 2020-11, Vol.6 (4), p.85

2020

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Bone disease in early detected Gaucher Type I disease: A case report

JIMD reports, 2022-09, Vol.63 (5), p.414-419

2022

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Unexpected high frequency of Krabbe disease detected by newborn screening in Italy

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107778, Article 107778

2024

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Family screening after newborn screening: The “domino effect” for Fabry disease

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107779, Article 107779

2024

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Normal cognitive outcome of transplanted mucopolysaccharidosis type I patients diagnosed by newborn screening

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107858, Article 107858

2024

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Non-compaction myocardium in an early-treated infantile-onset Pompe disease patient

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107857, Article 107857

2024

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Newborn screening for Gaucher disease in Italy: Birth prevalence and outcome

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107039, Article 107039

2023

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Effectiveness of corticosteroid treatment in a case of perinatal lethal Gaucher disease diagnosed by newborn screening

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107126, Article 107126

2023

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Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights

Molecular genetics and metabolism, 2024-05, Vol.142 (1), p.108151-108151, Article 108151

2024

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Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience

Molecular genetics and metabolism, 2021-05, Vol.133 (1), p.56-62

2021

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Long‐term follow‐up of a patient with neonatal form of Gaucher disease

American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1917-1922

2023

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High incidence of Gaucher disease in northeast Italy: Results from lysosomal newborn screening

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S36-S36

2020

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Newborn screening for MPS I: The clinical benefit

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S35-S36

2020

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Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients

Molecular genetics and metabolism, 2020-09, Vol.131 (1-2), p.155-162

2020

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Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus

Italian journal of pediatrics, 2021-01, Vol.47 (1), p.13-13, Article 13

2021

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Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy

The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria

Large Neutral Amino Acid Therapy Increases Tyrosine Levels in Adult Patients with Phenylketonuria: A Long-Term Study

Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy

Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient

A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature

Newborn screening for Pompe disease in Italy: Long-term results and future challenges

Newborn Screening for Fabry Disease: Current Status of Knowledge

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy

Non‐Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression

Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature

Bone disease in early detected Gaucher Type I disease: A case report

Unexpected high frequency of Krabbe disease detected by newborn screening in Italy

Family screening after newborn screening: The “domino effect” for Fabry disease

Normal cognitive outcome of transplanted mucopolysaccharidosis type I patients diagnosed by newborn screening

Non-compaction myocardium in an early-treated infantile-onset Pompe disease patient

Newborn screening for Gaucher disease in Italy: Birth prevalence and outcome

Effectiveness of corticosteroid treatment in a case of perinatal lethal Gaucher disease diagnosed by newborn screening

Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights

Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience

Long‐term follow‐up of a patient with neonatal form of Gaucher disease

High incidence of Gaucher disease in northeast Italy: Results from lysosomal newborn screening

Newborn screening for MPS I: The clinical benefit

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients

Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus

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