Luisa Bonafé Selected Research

Luisa Bonafé Research Topics

Disease

3	Osteogenesis Imperfecta (Lobstein Disease) 10/2023 - 08/2015
3	Diastrophic dysplasia 10/2023 - 10/2003
2	Achondroplasia 10/2023 - 01/2017
2	Osteolysis hereditary multicentric 09/2016 - 02/2007
2	Osteolysis 01/2016 - 02/2007
2	CODAS syndrome 11/2015 - 07/2015
2	Lactic Acidosis 07/2014 - 03/2014
2	Joint Diseases (Joint Disease) 08/2012 - 02/2007
2	Hepatolenticular Degeneration (Wilson's Disease) 08/2012 - 04/2012
2	Omani type Spondyloepiphyseal dysplasia 10/2010 - 06/2008
2	Joint Dislocations 10/2010 - 06/2008
2	Larsen Syndrome 10/2010 - 06/2008
1	Neurologic Manifestations (Neurological Manifestations) 01/2023
1	Osteitis Deformans (Paget's Disease of Bone) 03/2019
1	Type B Niemann-Pick Disease 03/2019
1	Renal Tubular Acidosis (Distal Renal Tubular Acidosis) 01/2018
1	Dyslipidemias (Dyslipidemia) 01/2018
1	Hyperuricemia 01/2018
1	Hypermethioninemia 01/2018
1	Intestinal Perforation 01/2018
1	Insulin Resistance 01/2018
1	Hypoglycemia (Reactive Hypoglycemia) 01/2018
1	Homocystinuria 01/2018
1	Fructose Intolerance (Intolerance, Fructose) 01/2018
1	Pain (Aches) 09/2016
1	Farber Lipogranulomatosis 01/2016
1	Fever (Fevers) 12/2015
1	Vomiting 12/2015
1	Dehydration (Water Stress) 12/2015
1	Accidental Injuries 08/2015
1	Migraine Disorders (Migraine) 07/2014
1	Sporadic Hemiplegic Migraine 07/2014
1	Ataxia (Dyssynergia) 07/2014
1	Brain Edema (Cerebral Edema) 07/2014
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 07/2014
1	Type 2 Episodic Ataxia 07/2014
1	Pyruvate Dehydrogenase Complex Deficiency Disease 07/2014
1	Inborn Genetic Diseases (Disease, Hereditary) 07/2014
1	Sudden Death 03/2014
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 03/2014
1	Hyperlactatemia 03/2014
1	Muscle Weakness 03/2014
1	Cardiac Arrhythmias (Arrythmia) 03/2014
1	Hyperammonemia 03/2014
1	Pulmonary Hypertension 03/2014
1	Mitochondrial Diseases (Mitochondrial Disease) 03/2014
1	3-Methylglutaconic Aciduria 03/2014
1	Muscle Hypotonia (Hypotonia) 03/2014
1	Critical Illness (Critically Ill) 03/2014
1	Cardiomyopathies (Cardiomyopathy) 03/2014
1	Hypertriglyceridemia 03/2014

Drug/Important Bio-Agent (IBA)

3	CollagenIBA 10/2023 - 08/2004
3	Diphosphonates (Bisphosphonates)IBA 09/2016 - 02/2012
3	EnzymesIBA 01/2016 - 06/2013
3	DNA (Deoxyribonucleic Acid)IBA 04/2012 - 04/2011
2	Biomarkers (Surrogate Marker)IBA 10/2023 - 08/2015
2	SulfotransferasesIBA 01/2023 - 10/2010
2	Matrix Metalloproteinase 2 (Gelatinase A)IBA 09/2016 - 02/2007
2	Peptide Hydrolases (Proteases)FDA Link 11/2015 - 07/2015
2	RNA (Ribonucleic Acid)IBA 04/2012 - 03/2008
2	Carbohydrate SulfotransferasesIBA 10/2010 - 06/2008
2	Sulfate TransportersIBA 06/2008 - 10/2003
1	Sulfates (Sulfates, Inorganic)IBA 10/2023
1	AntiportersIBA 10/2023
1	GlycosaminoglycansIBA 10/2023
1	ChloridesIBA 10/2023
1	CarbohydratesIBA 01/2023
1	neodymium pyrocatechin disulfonate (NPD)IBA 03/2019
1	Triglycerides (Triacylglycerol)IBA 01/2018
1	Uric Acid (Urate)IBA 01/2018
1	Omega-3 Fatty Acids (Omega 3 Fatty Acids)IBA 01/2018
1	Methionine (L-Methionine)FDA Link 01/2018
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2018
1	Essential Amino AcidsIBA 01/2018
1	Blood Glucose (Blood Sugar)IBA 01/2018
1	FructoseIBA 01/2018
1	Cystathionine beta-Synthase (Serine Sulfhydrase)IBA 01/2018
1	Acid CeramidaseIBA 01/2016
1	Transaminases (Aminotransferases)IBA 12/2015
1	pyridinolineIBA 08/2015
1	voltage-dependent calcium channel (P-Q type)IBA 07/2014
1	Calcium Channels (Calcium Channel)IBA 07/2014
1	Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA 07/2014
1	Pyruvic Acid (Pyruvate)IBA 07/2014
1	Phosphotransferases (Kinase)IBA 07/2014
1	Oxidoreductases (Dehydrogenase)IBA 07/2014
1	Fatty Acids (Saturated Fatty Acids)IBA 03/2014
1	Coenzyme A (CoA)IBA 03/2014
1	Carnitine (L-Carnitine)FDA LinkGeneric 03/2014
1	Adenosine Triphosphate (ATP)IBA 03/2014
1	Sildenafil Citrate (Viagra)FDA Link 03/2014
1	Nitric Oxide (Nitrogen Monoxide)FDA Link 03/2014
1	glycyrrhetyl 3-monoglucuronideIBA 03/2014

Therapy/Procedure

4	Therapeutics 09/2016 - 12/2005
3	Parenteral Nutrition 01/2018 - 09/2011
1	Contraindications 01/2018
1	Enteral Nutrition (Feeding, Tube) 01/2018
1	Investigational Therapies (Experimental Therapy) 01/2017
1	Decompression 01/2017
1	Continuous Renal Replacement Therapy 03/2014