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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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Case Report: Long-Term Tolvaptan Treatment in a Child With SIADH and Suprasellar Arachnoid Cyst

Frontiers in pediatrics, 2021-07, Vol.9

2021

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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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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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The Physical Space and the Development of Creativity in Peruvian Early Childhood Education: A Case Study in Arequipa

International Journal of Learning, Teaching and Educational Research, 2020-02, Vol.19 (2), p.203-213

2020

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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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Case Report: Long-Term Tolvaptan Treatment in a Child With SIADH and Suprasellar Arachnoid Cyst

Frontiers in pediatrics, 2021, Vol.9, p.684131-684131

2021

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Brain insulin resistance impairs hippocampal synaptic plasticity and memory by increasing GluA1 palmitoylation through FoxO3a

Nature communications, 2017-12, Vol.8 (1), p.2009-14, Article 2009

2017

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LS3MIP (v1.0) Contribution to CMIP6: The Land Surface, Snow and Soil Moisture Model Intercomparison Project Aims, Setup and Expected Outcome

Geoscientific Model Development, 2016-08, Vol.9 (8), p.2809-2832

2016

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Noninvasive vagus nerve stimulation as acute therapy for migraine: The randomized PRESTO study

Neurology, 2018-07, Vol.91 (4), p.e364

2018

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Atmospheric black carbon observations and its valley-mountain dynamics: Eastern cordillera of the central Andes of Peru

Environmental pollution (1987), 2024-08, Vol.355, p.124089-124089, Article 124089

2024

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Risk factors and impact of conversion from VATS to open lobectomy: analysis from a national database

Surgical endoscopy, 2019-12, Vol.33 (12), p.3953-3962

2019

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How young patients with cancer perceive the COVID‐19 (coronavirus) epidemic in Milan, Italy: Is there room for other fears?

Pediatric blood & cancer, 2020-07, Vol.67 (7), p.e28318-n/a

2020

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A collateral effect of the COVID‐19 pandemic: Delayed diagnosis in pediatric solid tumors

Pediatric blood & cancer, 2020-10, Vol.67 (10), p.e28640-n/a

2020

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Indications and Results of Sternal Allograft Transplantation: Learning From a Worldwide Experience

The Annals of thoracic surgery, 2021-07, Vol.112 (1), p.238-247

2021

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Staphylococcus aureus resists UVA at low irradiance but succumbs in the presence of TiO2 photocatalytic coatings

Journal of photochemistry and photobiology. B, Biology, 2019-04, Vol.193, p.131-139

2019

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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

Case Report: Long-Term Tolvaptan Treatment in a Child With SIADH and Suprasellar Arachnoid Cyst

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

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

The Physical Space and the Development of Creativity in Peruvian Early Childhood Education: A Case Study in Arequipa

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

Case Report: Long-Term Tolvaptan Treatment in a Child With SIADH and Suprasellar Arachnoid Cyst

Brain insulin resistance impairs hippocampal synaptic plasticity and memory by increasing GluA1 palmitoylation through FoxO3a

LS3MIP (v1.0) Contribution to CMIP6: The Land Surface, Snow and Soil Moisture Model Intercomparison Project Aims, Setup and Expected Outcome

Noninvasive vagus nerve stimulation as acute therapy for migraine: The randomized PRESTO study

Atmospheric black carbon observations and its valley-mountain dynamics: Eastern cordillera of the central Andes of Peru

Risk factors and impact of conversion from VATS to open lobectomy: analysis from a national database

How young patients with cancer perceive the COVID‐19 (coronavirus) epidemic in Milan, Italy: Is there room for other fears?

A collateral effect of the COVID‐19 pandemic: Delayed diagnosis in pediatric solid tumors

Indications and Results of Sternal Allograft Transplantation: Learning From a Worldwide Experience

Staphylococcus aureus resists UVA at low irradiance but succumbs in the presence of TiO2 photocatalytic coatings

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