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Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells

Scientific reports, 2018-04, Vol.8 (1), p.6247, Article 6247

2018

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Nutritional Deficiencies in Children with Celiac Disease Resulting from a Gluten-Free Diet: A Systematic Review

Nutrients, 2019-07, Vol.11 (7), p.1588

2019

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Wilson’s disease: Prospective developments towards new therapies

World journal of gastroenterology : WJG, 2017-08, Vol.23 (30), p.5451-5456

2017

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Obese children with fatty liver: Between reality and disease mongering

World journal of gastroenterology : WJG, 2017-12, Vol.23 (47), p.8277-8282

2017

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Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1147-1161

2019

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Early-Life Intestine Microbiota and Lung Health in Children

Journal of immunology research, 2017-01, Vol.2017, p.8450496-5

2017

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Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review

International journal of molecular sciences, 2022-08, Vol.23 (16), p.8952

2022

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Vitamin D Levels in the Pre- and Post-COVID-19 Pandemic Periods and Related Confinement at Pediatric Age

Nutrients, 2023-04, Vol.15 (9), p.2089

2023

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Galacto-Oligosaccharide/Polidextrose Enriched Formula Protects against Respiratory Infections in Infants at High Risk of Atopy: A Randomized Clinical Trial

Nutrients, 2018-03, Vol.10 (3), p.286

2018

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Author Correction: Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells

Scientific reports, 2020-06, Vol.10 (1), p.10476-10476, Article 10476

2020

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ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype

Human genetics, 2021-10, Vol.140 (10), p.1471-1485

2021

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Ultrasound findings in early congenital syphilis: Two case reports and literature review

Radiology case reports, 2024-05, Vol.19 (5), p.1859-1865

2024

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Continuous Erector Spinae Plane Block for Pain Management in a Pediatric Kidney Transplant Recipient: A Case Report and Review of the Current Literature

Journal of clinical medicine, 2024-02, Vol.13 (4), p.1128

2024

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Case Report: Add-on treatment with odevixibat in a new subtype of progressive familial intrahepatic cholestasis broadens the therapeutic horizon of genetic cholestasis

Frontiers in pediatrics, 2023-02, Vol.11, p.1061535

2023

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Multisystem inflammatory syndrome in children. An emerging clinical challenge for pediatric surgeons in the COVID 19 era

Journal of pediatric surgery case reports, 2021-06, Vol.69, p.101838-101838, Article 101838

2021

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Telemedicine in Patients Affected by Chronic Liver Disease: A Scoping Review of Clinical Outcomes and the Devices Evaluated

Journal of clinical medicine, 2023-08, Vol.12 (15), p.5128

2023

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Giant bezoar causing recurrent abdominal pain in a young girl with autism spectrum disorder

Journal of pediatric surgery case reports, 2022-05, Vol.80, p.102241, Article 102241

2022

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A promising medium‐term follow‐up of pediatric sclerosing cholangitis: Mild phenotype or early diagnosis?

Hepatology research, 2018-06, Vol.48 (7), p.556-565

2018

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Liver and Pancreatic Involvement in Children with Multisystem Inflammatory Syndrome Related to SARS-CoV-2: A Monocentric Study

Children (Basel), 2022-04, Vol.9 (4), p.575

2022

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Leptin: the prototypic adipocytokine and its role in NAFLD

Current pharmaceutical design, 2010-06, Vol.16 (17), p.1902

2010

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Re‐evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease

Hepatology (Baltimore, Md.), 2010-12, Vol.52 (6), p.1948-1956

2010

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Wilson Disease: A Matter of Copper, But Also of Zinc

Journal of pediatric gastroenterology and nutrition, 2015-04, Vol.60 (4), p.423-424

2015

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Aberrance of Serum Zinc and Free Copper Level in Wilson Disease

Journal of pediatric gastroenterology and nutrition, 2016-05, Vol.62 (5), p.e46-e46

2016

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Wilson Disease

Journal of pediatric gastroenterology and nutrition, 2015-04, Vol.60 (4), p.423-424

2015

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Activation of Autophagy, Observed in Liver Tissues From Patients With Wilson Disease and From ATP7B-Deficient Animals, Protects Hepatocytes From Copper-Induced Apoptosis

Gastroenterology (New York, N.Y. 1943), 2019-03, Vol.156 (4), p.1173-1189.e5

2019

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Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells

Nutritional Deficiencies in Children with Celiac Disease Resulting from a Gluten-Free Diet: A Systematic Review

Wilson’s disease: Prospective developments towards new therapies

Obese children with fatty liver: Between reality and disease mongering

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

Early-Life Intestine Microbiota and Lung Health in Children

Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review

Vitamin D Levels in the Pre- and Post-COVID-19 Pandemic Periods and Related Confinement at Pediatric Age

Galacto-Oligosaccharide/Polidextrose Enriched Formula Protects against Respiratory Infections in Infants at High Risk of Atopy: A Randomized Clinical Trial

Author Correction: Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells

ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype

Ultrasound findings in early congenital syphilis: Two case reports and literature review

Continuous Erector Spinae Plane Block for Pain Management in a Pediatric Kidney Transplant Recipient: A Case Report and Review of the Current Literature

Case Report: Add-on treatment with odevixibat in a new subtype of progressive familial intrahepatic cholestasis broadens the therapeutic horizon of genetic cholestasis

Multisystem inflammatory syndrome in children. An emerging clinical challenge for pediatric surgeons in the COVID 19 era

Telemedicine in Patients Affected by Chronic Liver Disease: A Scoping Review of Clinical Outcomes and the Devices Evaluated

Giant bezoar causing recurrent abdominal pain in a young girl with autism spectrum disorder

A promising medium‐term follow‐up of pediatric sclerosing cholangitis: Mild phenotype or early diagnosis?

Liver and Pancreatic Involvement in Children with Multisystem Inflammatory Syndrome Related to SARS-CoV-2: A Monocentric Study

Leptin: the prototypic adipocytokine and its role in NAFLD

Re‐evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease

Wilson Disease: A Matter of Copper, But Also of Zinc

Aberrance of Serum Zinc and Free Copper Level in Wilson Disease

Wilson Disease

Activation of Autophagy, Observed in Liver Tissues From Patients With Wilson Disease and From ATP7B-Deficient Animals, Protects Hepatocytes From Copper-Induced Apoptosis

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