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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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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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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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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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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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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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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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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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Measuring Caloric Intake at the Population Level (NOTION): Protocol for an Experimental Study

JMIR research protocols, 2019-03, Vol.8 (3), p.e12116-e12116

2019

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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, Vol.65 (2), p.56-62

2024

Volltextzugriff (PDF)

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

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

2023

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Lynx: A knowledge-based AI service platform for content processing, enrichment and analysis for the legal domain

Information systems (Oxford), 2022-05, Vol.106, p.101966, Article 101966

2022

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A roadmap for the VISIR remote lab

European journal of engineering education, 2023-09, Vol.48 (5), p.880-898

2023

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ECONOMIC AND AGRONOMIC POSITIONING OF FUNGICIDES IN CONDITIONS OF WATER DEFICIT IN SOYBEAN CULTURES

Tropical and subtropical agroecosystems, 2022-08, Vol.25 (3)

2022

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Clinical considerations and pathophysiological associations among obesity, weight loss, heart failure, and hypertension

Current opinion in cardiology, 2023-09, Vol.38 (5), p.447

2023

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P51: Implications of Significant (>10%) Changes in Body Mass Index in a Contemporary HeartMate 3 Cohort

ASAIO journal (1992), 2023-06, Vol.69 (Supplement 2), p.134-134

2023

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A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

Human molecular genetics, 2008-11, Vol.17 (21), p.3291-3302

2008

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S9.7 Dominant optic atrophy caused by a novel OPA1 mutation: Disruption of the mitochondrial network with preserved bioenergetics

Biochimica et biophysica acta. Bioenergetics, 2008-07, Vol.1777, p.S56-S56

2008

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PILAR: a Federation of VISIR Remote Laboratory Systems for Educational Open Activities

2018 IEEE International Conference on Teaching, Assessment, and Learning for Engineering (TALE), 2018, p.134-141

2018

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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

Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

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

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

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

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

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

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

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

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

Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity

Measuring Caloric Intake at the Population Level (NOTION): Protocol for an Experimental Study

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

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

Lynx: A knowledge-based AI service platform for content processing, enrichment and analysis for the legal domain

A roadmap for the VISIR remote lab

ECONOMIC AND AGRONOMIC POSITIONING OF FUNGICIDES IN CONDITIONS OF WATER DEFICIT IN SOYBEAN CULTURES

Clinical considerations and pathophysiological associations among obesity, weight loss, heart failure, and hypertension

P51: Implications of Significant (>10%) Changes in Body Mass Index in a Contemporary HeartMate 3 Cohort

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

S9.7 Dominant optic atrophy caused by a novel OPA1 mutation: Disruption of the mitochondrial network with preserved bioenergetics

PILAR: a Federation of VISIR Remote Laboratory Systems for Educational Open Activities

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