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Luisa Bonafé Selected Research

Dysostoses

8/2012Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.
10/2010Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.
6/2008Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

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Luisa Bonafé Research Topics

Disease

3Dysostoses
08/2012 - 06/2008
2Ataxia (Dyssynergia)
07/2014 - 08/2009
2Lactic Acidosis
07/2014 - 03/2014
2Rickets (Rachitis)
05/2014 - 01/2005
2Sudden Death
03/2014 - 08/2009
2Seizures (Seizure)
01/2014 - 11/2008
2Hepatolenticular Degeneration (Wilson's Disease)
08/2012 - 04/2012
2Dislocations
10/2010 - 06/2008
1Osteogenesis Imperfecta (Lobstein Disease)
01/2015
1Spinocerebellar Ataxias (Spinocerebellar Ataxia)
07/2014
1Brain Edema (Cerebral Edema)
07/2014
1Migraine Disorders (Migraine)
07/2014
1Hyperammonemia
03/2014
1Critical Illness (Critically Ill)
03/2014
1Muscle Weakness
03/2014
1Cardiomyopathies (Cardiomyopathy)
03/2014
1Hypertriglyceridemia
03/2014
1Muscle Hypotonia (Hypotonia)
03/2014
1Rhabdomyolysis
03/2014
1Hypertrophic Cardiomyopathy (Asymmetric Septal Hypertrophy)
03/2014
1Cardiac Arrhythmias (Arrythmia)
03/2014
1Pulmonary Hypertension (Ayerza Syndrome)
03/2014
1Hypocalcemia
06/2013
1Hypoparathyroidism
06/2013
1Connective Tissue Diseases (Connective Tissue Disease)
06/2013
1Neurologic Manifestations (Neurological Manifestations)
08/2012
1Lysosomal Storage Diseases (Lysosomal Storage Disease)
02/2012
1Bone Diseases (Bone Disease)
02/2012
1Gaucher Disease (Gaucher's Disease)
02/2012
1Metabolic Bone Diseases (Osteopenia)
02/2012
1Joint Instability (Joint Laxity)
12/2011
1Chondromatosis
11/2011
1Weight Gain
09/2011
1Enchondromatosis (Ollier Disease)
04/2011
1Autoimmune Diseases (Autoimmune Disease)
02/2011
1Respiratory Tract Infections (Respiratory Tract Infection)
12/2010
1Muscular Diseases (Myopathy)
12/2010
1Dwarfism
09/2010
1Thrombosis (Thrombus)
04/2010
1Tremor (Tremors)
08/2009
1Generalized Epilepsy
11/2008
1Osteolysis
02/2007
1Phenylketonurias (Phenylketonuria)
12/2005
1Anemia
10/2005
1Neoplasms (Cancer)
10/2005
1Craniosynostoses (Craniosynostosis)
12/2004
1Acrocephalosyndactylia (Apert Syndrome)
12/2004
1Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
10/2003
1Ornithine Carbamoyltransferase Deficiency Disease
05/2002

Drug/Important Bio-Agent (IBA)

5Pyle diseaseIBA
05/2014 - 01/2005
3DNA (Deoxyribonucleic Acid)IBA
04/2012 - 04/2011
22-HydroxyglutaricaciduriaIBA
11/2011 - 08/2009
2carbohydrate sulfotransferases (keratan sulfotransferase)IBA
10/2010 - 06/2008
1pyridinolineIBA
01/2015
1Biological Markers (Surrogate Marker)IBA
01/2015
1Calcium Channels (Calcium Channel)IBA
07/2014
1voltage-dependent calcium channel (P-Q type)IBA
07/2014
1Episodic ataxia with nystagmusIBA
07/2014
1Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA
07/2014
1Carnitine (L-Carnitine)FDA LinkGeneric
03/2014
1Adenosine Triphosphate (ATP)IBA
03/2014
1glycyrrhetyl 3-monoglucuronideIBA
03/2014
1Coenzyme A (CoA)IBA
03/2014
1sildenafil (Viagra)FDA Link
03/2014
1Nitric Oxide (Nitrogen Monoxide)FDA Link
03/2014
1First StepIBA
01/2014
1Gracile bone dysplasiaIBA
06/2013
1progeroid form Ehlers-Danlos syndromeIBA
06/2013
1Kenny Caffey syndromeIBA
06/2013
1CopperIBA
08/2012
1RNA (Ribonucleic Acid)IBA
04/2012
1CalciumIBA
02/2012
1Vitamin DFDA LinkGeneric
02/2012
1KinesinIBA
12/2011
1SpondyloenchondrodysplasiaIBA
02/2011
1Leu Transfer RNAIBA
12/2010
1ChondroitinIBA
10/2010
1filaminsIBA
10/2010
1Desbuquois syndromeIBA
10/2010
1Dyssegmental dysplasiaIBA
09/2010
1Cystathionine beta-Synthase (Serine Sulfhydrase)IBA
04/2010
1Glucose Transporter Type 1IBA
11/2008
1Omani type Spondyloepiphyseal dysplasiaIBA
06/2008
110-N-nonylacridinium orange (NAO)IBA
02/2007
1Winchester syndromeIBA
02/2007
15,6,7,8-tetrahydrobiopterin (tetrahydrobiopterin)FDA Link
12/2005
1Cartilage-hair hypoplasiaIBA
10/2005
1Protein-Tyrosine Kinases (Tyrosine Kinase)IBA
12/2004
1Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA
12/2004
1Atelosteogenesis type 2IBA
10/2003
1Diastrophic dysplasiaIBA
10/2003
1Achondrogenesis type 1BIBA
10/2003
1Allopurinol (Remid)FDA LinkGeneric
05/2002

Therapy/Procedure

2Parenteral Nutrition
03/2014 - 09/2011
1Renal Replacement Therapy (Therapies, Renal Replacement)
03/2014
1Enzyme Replacement Therapy
02/2012
1Wheelchairs (Wheel Chair)
12/2010
1Ketogenic Diet
11/2008