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Andrea Poretti Selected Research

Gomez Lopez Hernandez syndrome

12/2010Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria.
5/2008Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis.

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Andrea Poretti Research Topics

Disease

4Wounds and Injuries (Trauma)
01/2016 - 04/2012
3Tuberous Sclerosis (Bourneville's Disease)
01/2019 - 01/2013
3Atrophy
01/2019 - 01/2017
3Brain Hypoxia-Ischemia (Hypoxia Ischemia, Brain)
01/2019 - 01/2017
3Brain Injuries (Brain Injury)
04/2017 - 08/2012
3Seizures (Absence Seizure)
01/2017 - 01/2013
2Asphyxia (Suffocation)
01/2019 - 01/2017
2Cysts
08/2018 - 12/2017
2Hypothermia
01/2017 - 01/2017
2Astrocytoma (Pilocytic Astrocytoma)
01/2017 - 01/2013
2Infantile Spasms (West Syndrome)
09/2014 - 08/2012
2Gomez Lopez Hernandez syndrome
12/2010 - 05/2008
2Alopecia (Baldness)
12/2010 - 05/2008
1Genomic Instability
01/2020
1Autistic Disorder (Autism)
01/2019
1Epilepsy (Aura)
01/2019
1Hypertrophy
01/2019
1Cardiomyopathies (Cardiomyopathy)
01/2019
1Inborn Genetic Diseases (Disease, Hereditary)
01/2019
1Leukoencephalopathies
01/2019
1Megalencephaly
08/2018
1Hydrocephalus (Hydrocephaly)
08/2018
1Cerebellar Ataxia (Dysmetria)
08/2018
1Globoid Cell Leukodystrophy (Krabbe Disease)
11/2016
1Diabetic Ketoacidosis (Ketoacidosis, Diabetic)
10/2016
1Type 1 Diabetes Mellitus (Autoimmune Diabetes)
10/2016
1Spinal Cord Diseases
02/2015
1Methylmalonic acidemia
11/2014
1Chronic Kidney Failure (Chronic Renal Failure)
11/2014
1Achondroplasia
11/2014
1Language Development Disorders (Semantic-Pragmatic Disorder)
09/2014
1Hemorrhage
09/2014
1Molybdenum cofactor deficiency
06/2014
1Chromosome Aberrations (Chromosome Abnormalities)
06/2014
1Infections
06/2014
1Dandy-Walker Syndrome (Dandy Walker Malformation)
06/2014
1CHARGE Syndrome
06/2014
1Trisomy 13 Syndrome
06/2014
1Smith-Lemli-Opitz Syndrome
06/2014
1Neoplasms (Cancer)
12/2013
1Cerebellar Neoplasms
12/2013
1Angiomyolipoma
01/2013
1Angiofibroma
01/2013
1Metabolic Diseases (Metabolic Disease)
08/2012
1Neuroblastoma
04/2012
1Spinal Cord Compression
04/2012
1Ataxia (Dyssynergia)
12/2010
1Corneal Opacity
12/2010
1Neural Tube Defects (Exencephaly)
10/2008
1Scoliosis
04/2008
1Craniopharyngioma (Craniopharyngiomas)
04/2004

Drug/Important Bio-Agent (IBA)

3Biomarkers (Surrogate Marker)IBA
11/2016 - 12/2013
2IronIBA
01/2019 - 09/2014
2trans-sodium crocetinate (crocetin)IBA
01/2019 - 01/2013
2EverolimusFDA Link
01/2017 - 01/2013
2phosphomannomutaseIBA
01/2017 - 01/2017
2VigabatrinFDA Link
09/2014 - 08/2012
1B-Form DNA (B-DNA)IBA
01/2020
1Alanine-tRNA LigaseIBA
01/2019
1TubulinIBA
12/2017
1Illicit Drugs (Recreational Drugs)IBA
04/2017
1Carbon DioxideIBA
01/2017
1Congenital disorder of glycosylation type 1AIBA
01/2017
1GalactosylceramidaseIBA
11/2016
1Insulin (Novolin)FDA Link
10/2016
1Contrast MediaIBA
02/2015
1Methylmalonic AcidIBA
11/2014
1CalciumIBA
09/2014
1Anticonvulsants (Antiepileptic Drugs)IBA
09/2014
1Adenylosuccinate lyase deficiencyIBA
06/2014
1TeratogensIBA
06/2014
1Folic Acid (Vitamin M)FDA LinkGeneric
10/2008

Therapy/Procedure

6Therapeutics
01/2017 - 04/2012
2Induced Hypothermia
01/2019 - 01/2017
2Colonic Pouches (S Pouch)
08/2018 - 04/2004
2Anesthesia
12/2010 - 05/2008
1Hematopoietic Stem Cell Transplantation
11/2016
1Sutures (Suture)
10/2015
1Renal Dialysis (Hemodialysis)
11/2014
1Liver Transplantation
11/2014
1Kidney Transplantation
11/2014
1Language Therapy (Language Training)
09/2014
1Emergency Treatment
04/2012
1Spinal Fusion (Spondylosyndesis)
04/2008