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Successful Pregnancy in a Patient with L‐Amino Acid Decarboxylase Deficiency: Therapeutic Management and Clinical Outcome.
- Published in:
- Movement Disorders Clinical Practice, 2018, v. 5, n. 4, p. 446, doi. 10.1002/mdc3.12622
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- Publication type:
- Article
Actual insights into the clinical management of febrile seizures.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 8, p. 977, doi. 10.1007/s00431-014-2269-7
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- Publication type:
- Article
Eponym : Rasmussen syndrome.
- Published in:
- 2010
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- Publication type:
- journal article
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Inborn errors of creatine metabolism and epilepsy.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 2, p. 217, doi. 10.1111/epi.12020
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- Publication type:
- Article
The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 9, p. 3665, doi. 10.1007/s00431-024-05657-6
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- Publication type:
- Article
Acute ischemic stroke in childhood: a comprehensive review.
- Published in:
- European Journal of Pediatrics, 2022, v. 181, n. 1, p. 45, doi. 10.1007/s00431-021-04212-x
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- Publication type:
- Article
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25515-5
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- Publication type:
- Article
Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 522, doi. 10.1002/ajmg.a.62548
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- Publication type:
- Article
PRICKLE1‐related early onset epileptic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2841, doi. 10.1002/ajmg.a.40625
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- Publication type:
- Article
Early post-cooling brain magnetic resonance for the prediction of neurodevelopmental outcome in newborns with hypoxic–ischemic encephalopathy.
- Published in:
- Journal of Pediatric Neurosciences, 2019, v. 14, n. 4, p. 191, doi. 10.4103/jpn.JPN_25_19
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- Publication type:
- Article
Actual insights into treatable inborn errors of metabolism causing epilepsy.
- Published in:
- Journal of Pediatric Neurosciences, 2018, v. 13, n. 1, p. 13, doi. 10.4103/JPN.JPN_160_16
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- Publication type:
- Article
Bilateral perysilvian polymicrogyria in Chiari I malformation.
- Published in:
- Child's Nervous System, 2006, v. 22, n. 12, p. 1635, doi. 10.1007/s00381-006-0180-x
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- Publication type:
- Article
On-board sensors for work-site vehicles. SAcS anti-rollover alarm system for earthmoving equipment.
- Published in:
- Valori e Valutazioni, 2022, n. 31, p. 103
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- Publication type:
- Article
Contemporary onset of atypical chronic inflammatory demyelinating polyradiculoneuropathy and type 1 diabetes in an adolescent.
- Published in:
- Diabetic Medicine, 2021, v. 38, n. 10, p. 1, doi. 10.1111/dme.14563
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- Publication type:
- Article
Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.
- Published in:
- Frontiers in Neurology, 2022, p. 1, doi. 10.3389/fneur.2022.855134
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- Publication type:
- Article
Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 1, p. 29, doi. 10.1007/s11011-020-00635-x
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- Publication type:
- Article
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 1, p. 261, doi. 10.1007/s11011-017-0150-x
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- Publication type:
- Article
Photosensitivity as an early marker of epileptic and developmental encephalopathies.
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
Natural Course of IQSEC2 -Related Encephalopathy: An Italian National Structured Survey.
- Published in:
- Children, 2023, v. 10, n. 9, p. 1442, doi. 10.3390/children10091442
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- Publication type:
- Article
Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review.
- Published in:
- Children, 2023, v. 10, n. 3, p. 553, doi. 10.3390/children10030553
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- Publication type:
- Article
Loss of Continuity of Care in Pediatric Neurology Services during COVID-19 Lockdown: An Additional Stressor for Parents.
- Published in:
- Children, 2022, v. 9, n. 6, p. 867, doi. 10.3390/children9060867
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- Publication type:
- Article
Editorial: Genetically determined epilepsies: Perspectives in the era of precision medicine.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.1036846
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- Publication type:
- Article
Correction to: Clinical approach to neurodegenerative disorders in childhood: an updated overview.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Clinical approach to neurodegenerative disorders in childhood: an updated overview.
- Published in:
- Acta Neurologica Belgica, 2019, v. 119, n. 4, p. 511, doi. 10.1007/s13760-019-01160-0
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- Publication type:
- Article
Sudden unexpected death in epilepsy: The need for age‐specific evidence‐based prevention.
- Published in:
- Developmental Medicine & Child Neurology, 2023, v. 65, n. 9, p. 1134, doi. 10.1111/dmcn.15560
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- Publication type:
- Article
CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 8, p. 5368, doi. 10.1007/s00415-024-12421-1
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- Publication type:
- Article
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1121, doi. 10.1002/jimd.12247
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- Publication type:
- Article
Diagnostic work-up and therapeutic options in management of pediatric status epilepticus.
- Published in:
- World Journal of Pediatrics, 2012, v. 8, n. 2, p. 109, doi. 10.1007/s12519-012-0348-2
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- Publication type:
- Article
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 582, doi. 10.1002/ajmg.a.33318
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- Publication type:
- Article
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
- Published in:
- Genes, 2023, v. 14, n. 2, p. 263, doi. 10.3390/genes14020263
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- Publication type:
- Article
Genetic background of febrile seizures.
- Published in:
- Reviews in the Neurosciences, 2014, v. 25, n. 1, p. 129, doi. 10.1515/revneuro-2013-0053
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- Publication type:
- Article
AP1S2‐truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency.
- Published in:
- 2019
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- Publication type:
- Case Study
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Complex epileptic (Foix–Chavany–Marie like) syndrome in a child with neurofibromatosis type 1 (NF1) and bilateral (opercular and paracentral) polymicrogyria.
- Published in:
- Acta Paediatrica, 2009, v. 98, n. 4, p. 760, doi. 10.1111/j.1651-2227.2008.01183.x
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- Publication type:
- Article
Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency.
- Published in:
- Movement Disorders, 2013, v. 28, n. 4, p. 556, doi. 10.1002/mds.25303
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- Publication type:
- Article
Laparoscopic patch repair of a Morgagni hernia in Menkes disease.
- Published in:
- Asian Journal of Endoscopic Surgery, 2021, v. 14, n. 3, p. 553, doi. 10.1111/ases.12865
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- Publication type:
- Article
Minor Head Trauma in the Pediatric Emergency Department: Decision Making Nodes.
- Published in:
- Current Pediatric Reviews, 2017, v. 13, n. 2, p. 92
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- Publication type:
- Article