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Luisa Bonafé Selected Research

Osteolysis hereditary multicentric

9/2016Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach.
2/2007Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.

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Luisa Bonafé Research Topics

Disease

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

Drug/Important Bio-Agent (IBA)

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

Therapy/Procedure

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