Mario Giuffrè Selected Research

French Canadian type Leigh syndrome

9/2020

Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient.

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Mario Giuffrè Research Topics

Disease

5	Infections 02/2022 - 10/2011
4	Sepsis (Septicemia) 12/2019 - 10/2014
2	Premature Birth (Birth, Premature) 10/2020 - 10/2012
2	Down Syndrome (Down's Syndrome) 09/2007 - 06/2003
1	Bronchopulmonary Dysplasia 06/2022
1	Sarcoma (Soft Tissue Sarcoma) 05/2022
1	Cardiofaciocutaneous syndrome 05/2022
1	Colic (Abdominal Cramps) 02/2022
1	Surgical Wound Infection 02/2022
1	Renal Insufficiency (Renal Failure) 02/2022
1	Turner Syndrome (Turner's Syndrome) 02/2022
1	Hypertrophic Pyloric Stenosis 02/2022
1	Alkalosis 02/2022
1	Malnutrition (Nutritional Deficiencies) 01/2022
1	Neurodevelopmental Disorders 01/2022
1	Lung Injury 01/2021
1	Lung Diseases (Lung Disease) 01/2021
1	Cystic Fibrosis (Mucoviscidosis) 10/2020
1	Neoplasms (Cancer) 10/2020
1	Thrombophlebitis 10/2020
1	French Canadian type Leigh syndrome 09/2020
1	Muscle Hypotonia (Hypotonia) 09/2020
1	Cleft Palate (Palate, Cleft) 09/2020
1	Hirschsprung Disease (Hirschsprung's Disease) 09/2020
1	Hypoglycemia (Reactive Hypoglycemia) 09/2020
1	Birth Weight (Birth Weights) 05/2020
1	Food Hypersensitivity (Food Allergy) 01/2020
1	Respiratory Distress Syndrome (Acute Respiratory Distress Syndrome) 08/2018
1	Disease Progression 08/2018
1	Esophageal Atresia 01/2018
1	Wounds and Injuries (Trauma) 01/2018
1	Cardiomyopathies (Cardiomyopathy) 01/2018
1	Pathologic Constriction (Stenosis) 01/2018
1	Right Ventricular Dysfunction 01/2018
1	Thrombosis (Thrombus) 01/2016
1	Septic Shock (Toxic Shock Syndrome) 01/2016
1	Penis agenesis 04/2015
1	Acidosis 01/2014
1	Cross Infection (Nosocomial Infection) 10/2011
1	Myocardial Infarction 09/2007
1	Pathologic Processes 09/2007
1	Alzheimer Disease (Alzheimer's Disease) 09/2007
1	Down Syndrome Critical Region 09/2007
1	Multicystic Dysplastic Kidney (Multicystic Kidney) 07/2007
1	Hypercalciuria 04/2004

Drug/Important Bio-Agent (IBA)

6	Anti-Bacterial Agents (Antibiotics)IBA 12/2020 - 10/2011
3	AntioxidantsIBA 06/2022 - 06/2003
2	Proteins (Proteins, Gene)FDA Link 05/2022 - 09/2007
2	EnzymesIBA 08/2018 - 06/2003
1	Mitogen-Activated Protein KinasesIBA 05/2022
1	Bicarbonates (Hydrogen Carbonate)IBA 02/2022
1	Steryl-Sulfatase (Steroid Sulfatase)IBA 02/2022
1	Voltage-Gated Sodium ChannelsIBA 01/2022
1	Biomarkers (Surrogate Marker)IBA 01/2021
1	Biocompatible Materials (Biomaterials)IBA 12/2020
1	Amphotericin B (Amphotericin)FDA LinkGeneric 10/2020
1	Leucine (L-Leucine)FDA Link 09/2020
1	Cysteine (L-Cysteine)FDA Link 09/2020
1	Diazoxide (Hyperstat)FDA Link 09/2020
1	Glucagon (Glukagon)FDA Link 09/2020
1	Glucose (Dextrose)FDA LinkGeneric 09/2020
1	Retinaldehyde (Retinal)IBA 09/2020
1	TeratogensIBA 05/2020
1	Folic Acid (Vitamin M)FDA LinkGeneric 05/2020
1	Analgesics (Analgesic Drugs)IBA 05/2020
1	AntigensIBA 01/2020
1	Vancomycin FDA LinkGeneric 01/2018
1	Colistin (Coly-Mycin)FDA Link 01/2018
1	Acetaminophen (Paracetamol)FDA LinkGeneric 01/2018
1	PolyphenolsIBA 01/2018
1	Micafungin (FK463)FDA Link 01/2017
1	Plasminogen Activator Inhibitor 1IBA 01/2016
1	Plasminogen Activators (Plasminogen Activator)IBA 01/2016
1	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 01/2016
1	Testosterone (Sustanon)FDA Link 04/2015
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2014
1	Adrenal Cortex Hormones (Corticosteroids)IBA 10/2012
1	Transcription Factors (Transcription Factor)IBA 09/2007
1	ApolipoproteinsIBA 09/2007
1	Amyloid (Amyloid Fibrils)IBA 09/2007
1	Apolipoprotein E4IBA 09/2007
1	Interferon alpha-beta Receptor (Receptor, Interferon alpha beta)IBA 09/2007
1	Superoxide Dismutase-1IBA 09/2007
1	Anticonvulsants (Antiepileptic Drugs)IBA 07/2007
1	Calcium-Sensing ReceptorsIBA 04/2004
1	VitaminsIBA 06/2003

Therapy/Procedure

2	Catheters 12/2020 - 01/2018
2	Therapeutics 10/2020 - 10/2014
2	Central Venous Catheters 10/2020 - 12/2016
2	Length of Stay 05/2020 - 01/2018
1	Laparotomy 02/2022
1	Appendectomy 02/2022
1	Operative Surgical Procedures 02/2022
1	Denervation 01/2022
1	Total Parenteral Nutrition 10/2020
1	Gastrostomy 09/2020
1	Enteral Nutrition (Feeding, Tube) 12/2019
1	Parenteral Nutrition 12/2019
1	Self Medication 01/2018
1	Hand Hygiene 10/2011