Licia Lugli Selected Research

pyridoxine 5-phosphate

12/2019

Further Delineation of Pyridoxine-Responsive Pyridoxine Phosphate Oxidase Deficiency Epilepsy: Report of a New Case and Review of the Literature With Genotype-Phenotype Correlation.

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Licia Lugli Research Topics

Disease

4	Infections 01/2022 - 02/2010
3	Hypothermia 12/2022 - 12/2016
3	Brain Hypoxia-Ischemia (Hypoxia Ischemia, Brain) 01/2021 - 12/2016
3	Epilepsy (Aura) 01/2021 - 06/2009
2	Seizures (Absence Seizure) 12/2022 - 12/2016
2	Sepsis (Septicemia) 04/2021 - 12/2014
1	recessive Cutis laxa 09/2022
1	Exfoliative Dermatitis (Erythroderma) 01/2022
1	Diarrhea 01/2022
1	Lymphadenopathy 01/2022
1	Alopecia (Baldness) 01/2022
1	Septic Shock (Toxic Shock Syndrome) 01/2022
1	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 01/2022
1	Opportunistic Infections (Opportunistic Infection) 01/2022
1	Cartilage-hair hypoplasia 02/2021
1	Hemorrhage 01/2021
1	Viral Bronchiolitis 01/2021
1	Bradycardia 01/2021
1	Bacterial Infections (Bacterial Infection) 01/2021
1	Respiratory Distress Syndrome (Acute Respiratory Distress Syndrome) 01/2021
1	Virus Diseases (Viral Diseases) 01/2021
1	Superinfection 01/2021
1	Ciliopathies 10/2020
1	Brain Diseases (Brain Disorder) 01/2020
1	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 12/2019
1	Noonan Syndrome (Female Pseudo-Turner Syndrome) 01/2018
1	Status Epilepticus (Complex Partial Status Epilepticus) 12/2016
1	Neuraminidase deficiency with beta-galactosidase deficiency 08/2013
1	Confusion (Bewilderment) 08/2013
1	Cardiomyopathies (Cardiomyopathy) 02/2013
1	Motor Skills Disorders (Motor Skills Disorder) 11/2012
1	Late Onset Disorders 11/2012
1	Fever (Fevers) 10/2011
1	Convulsions benign familial neonatal dominant form 06/2009

Drug/Important Bio-Agent (IBA)

4	Anti-Bacterial Agents (Antibiotics)IBA 01/2022 - 02/2010
3	Proteins (Proteins, Gene)FDA Link 01/2022 - 08/2013
2	Oxygen (Dioxygen)IBA 01/2021 - 02/2013
1	Fentanyl (Sublimaze)FDA LinkGeneric 12/2022
1	Heparin (Liquaemin)FDA LinkGeneric 12/2022
1	delta-1-pyrroline-5-carboxylateIBA 09/2022
1	Antiviral Agents (Antivirals)IBA 01/2022
1	RNA (Ribonucleic Acid)IBA 01/2022
1	Biological ProductsIBA 01/2022
1	mitochondrial RNA-processing endoribonuclease (RNAse MRP)IBA 02/2021
1	Immunoglobulin G (IgG)IBA 01/2021
1	Immunoglobulin M (IgM)IBA 01/2021
1	Surface-Active Agents (Surfactants)IBA 01/2021
1	Pyridoxine (Pyridoxin)FDA LinkGeneric 12/2019
1	Oxidoreductases (Dehydrogenase)IBA 12/2019
1	pyridoxine 5-phosphateIBA 12/2019
1	Biomarkers (Surrogate Marker)IBA 01/2019
1	Monomeric GTP-Binding ProteinsIBA 01/2018
1	Anticonvulsants (Antiepileptic Drugs)IBA 12/2016
1	GalactosidasesIBA 08/2013
1	Cathepsin AIBA 08/2013
1	Protein Isoforms (Isoforms)IBA 08/2013
1	Neuraminidase (Sialidase)IBA 08/2013
1	5'-deoxy-5'-phosphonomethyladenosine phosphateIBA 08/2013
1	dicarboxydine (DCD)IBA 11/2012
1	PotassiumIBA 06/2009

Therapy/Procedure

3	Induced Hypothermia 01/2021 - 01/2020
2	Antibiotic Prophylaxis 01/2021 - 12/2014
1	Intravenous Infusions 12/2022
1	Cardiopulmonary Resuscitation (CPR) 01/2022
1	Hematopoietic Stem Cell Transplantation 01/2022
1	Resuscitation 01/2021
1	Pain Management 01/2020
1	Neonatal Intensive Care 01/2019
1	Rewarming 01/2019
1	Cesarean Section (Caesarean Section) 10/2011
1	Chemoprevention 02/2010