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Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice

Nutrients, 2023-12, Vol.16 (1), p.13

2023

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Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease

Orphanet journal of rare diseases, 2024-01, Vol.19 (1), p.3-3, Article 3

2024

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Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene

Frontiers in genetics, 2024-08, Vol.15, p.1437959

2024

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Quo vadis ureagenesis disorders? A journey from 90 years ago into the future

Journal of inherited metabolic disease, 2024-06

2024

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Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study

European journal of endocrinology, 2023-11, Vol.189 (5), p.485-494

2023

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SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature

Journal of Pediatric Endocrinology and Metabolism, 2021-02, Vol.34 (2), p.261-266

2021

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CDKL5 deficiency disorder in males: Five new variants and review of the literature

European journal of paediatric neurology, 2021-07, Vol.33, p.9-20

2021

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The diagnostic challenge of mild citrulline elevation at newborn screening

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.327-332

2022

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Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome

Molecular genetics and metabolism, 2022-01, Vol.135 (1), p.109-113

2022

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Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study

Epilepsia (Copenhagen), 2023-06, Vol.64 (6), p.1612-1626

2023

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Neurologic outcome following liver transplantation for methylmalonic aciduria

Journal of inherited metabolic disease, 2023-05, Vol.46 (3), p.450-465

2023

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Absence of lingual frenulum in children with Ehlers-Danlos Syndrome: a retrospective study of forty cases and literature review of a twenty years long debate

Minerva Pediatrics, 2021-06, Vol.73 (3), p.230

2021

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The challenge of extraabdominal desmoid tumour management in patients with Gardner's syndrome: radiofrequency ablation, a promising option

World journal of surgical oncology, 2014-11, Vol.12 (1), p.361-361

2014

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Medication-Related Osteonecrosis of the Jaw: MASCC/ISOO/ASCO Clinical Practice Guideline

Journal of clinical oncology, 2019-09, Vol.37 (25), p.2270-2290

2019

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Frailty assessment tools and geriatric assessment in older patients with hepatobiliary and pancreatic malignancies

European journal of surgical oncology, 2021-03, Vol.47 (3), p.514-518

2021

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Robust concentration inequalities in maximal exponential models

Statistics & probability letters, 2021-03, Vol.170, p.109001, Article 109001

2021

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Post-acute sequelae of covid-19 six to 12 months after infection: population based study

BMJ (Online), 2022-10, p.e071050

2022

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Advanced MR Techniques for Preoperative Glioma Characterization: Part 1

Journal of magnetic resonance imaging, 2023-06, Vol.57 (6), p.1655-1675

2023

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Structural Brain Abnormalities of Attention-Deficit/Hyperactivity Disorder With Oppositional Defiant Disorder

Biological psychiatry (1969), 2017-11, Vol.82 (9), p.642-650

2017

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Forward Backward SDEs Systems for Utility Maximization in Jump Diffusion Models

Applied mathematics & optimization, 2024-06, Vol.89 (3), p.65, Article 65

2024

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Advanced MR Techniques for Preoperative Glioma Characterization: Part 2

Journal of magnetic resonance imaging, 2023-06, Vol.57 (6), p.1676-1695

2023

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Neurocognitive Deficits in Attention-Deficit/Hyperactivity Disorder With and Without Comorbid Oppositional Defiant Disorder

Journal of attention disorders, 2020-07, Vol.24 (9), p.1317-1329

2020

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Risk factors for comorbid oppositional defiant disorder in attention-deficit/hyperactivity disorder

European child & adolescent psychiatry, 2017-10, Vol.26 (10), p.1155-1164

2017

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Development and validation of a robotic multifactorial fall-risk predictive model: A one-year prospective study in community-dwelling older adults

PloS one, 2020-06, Vol.15 (6), p.e0234904-e0234904

2020

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Associations between parental alcohol problems in childhood and adversities during childhood and later adulthood: a cross-sectional study of 28047 adults from the general population

Substance abuse treatment, prevention and policy, 2021-06, Vol.16 (1), p.1-47, Article 47

2021

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Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice

Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease

Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene

Quo vadis ureagenesis disorders? A journey from 90 years ago into the future

Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study

SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature

CDKL5 deficiency disorder in males: Five new variants and review of the literature

The diagnostic challenge of mild citrulline elevation at newborn screening

Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study

Neurologic outcome following liver transplantation for methylmalonic aciduria

Absence of lingual frenulum in children with Ehlers-Danlos Syndrome: a retrospective study of forty cases and literature review of a twenty years long debate

The challenge of extraabdominal desmoid tumour management in patients with Gardner's syndrome: radiofrequency ablation, a promising option

Medication-Related Osteonecrosis of the Jaw: MASCC/ISOO/ASCO Clinical Practice Guideline

Frailty assessment tools and geriatric assessment in older patients with hepatobiliary and pancreatic malignancies

Robust concentration inequalities in maximal exponential models

Post-acute sequelae of covid-19 six to 12 months after infection: population based study

Advanced MR Techniques for Preoperative Glioma Characterization: Part 1

Structural Brain Abnormalities of Attention-Deficit/Hyperactivity Disorder With Oppositional Defiant Disorder

Forward Backward SDEs Systems for Utility Maximization in Jump Diffusion Models

Advanced MR Techniques for Preoperative Glioma Characterization: Part 2

Neurocognitive Deficits in Attention-Deficit/Hyperactivity Disorder With and Without Comorbid Oppositional Defiant Disorder

Risk factors for comorbid oppositional defiant disorder in attention-deficit/hyperactivity disorder

Development and validation of a robotic multifactorial fall-risk predictive model: A one-year prospective study in community-dwelling older adults

Associations between parental alcohol problems in childhood and adversities during childhood and later adulthood: a cross-sectional study of 28047 adults from the general population

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