Charles Marques Lourenço Selected Research

Charles Marques Lourenço Research Topics

Disease

3	Mucopolysaccharidosis III (Sanfilippo Syndrome) 01/2024 - 05/2010
3	Mucopolysaccharidoses 12/2017 - 05/2010
2	Spastic ataxia Charlevoix-Saguenay type 01/2021 - 01/2019
2	Hereditary Spastic Paraplegia 10/2018 - 07/2013
2	Lysosomal Storage Diseases (Lysosomal Storage Disease) 11/2017 - 05/2014
2	Mucolipidoses (Sialidosis) 11/2017 - 06/2015
2	Fabry Disease (Fabry's Disease) 10/2016 - 06/2012
2	Mucopolysaccharidosis IV (Morquio Syndrome) 05/2014 - 05/2010
2	Mucopolysaccharidosis I (Hurler Syndrome) 03/2014 - 05/2010
2	Inborn Genetic Diseases (Disease, Hereditary) 10/2010 - 05/2010
1	Language Development Disorders (Semantic-Pragmatic Disorder) 05/2024
1	Dementia (Dementias) 05/2024
1	Movement Disorders (Movement Disorder) 05/2024
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 05/2024
1	Seizures (Absence Seizure) 05/2024
1	Neurodegenerative Diseases (Neurodegenerative Disease) 05/2024
1	Phenylketonurias (Phenylketonuria) 09/2021
1	Neurologic Manifestations (Neurological Manifestations) 09/2021
1	Ataxia (Dyssynergia) 01/2021
1	Type 4A Charcot-Marie-Tooth disease 01/2021
1	Type 2K Charcot-Marie-Tooth disease 01/2021
1	Hyperplasia 01/2021
1	Recessive Intermediate A Charcot-Marie-Tooth Disease 01/2021
1	Metabolic Diseases (Metabolic Disease) 11/2020
1	Maple Syrup Urine Disease 11/2020
1	GM1 Gangliosidosis (Gangliosidosis GM1) 09/2019
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2019
1	Parkinsonian Disorders (Parkinsonism) 10/2018
1	Spinocerebellar Degenerations (Marinesco Sjogren Syndrome) 01/2018
1	Hypoalbuminemia 01/2018
1	Apraxias (Dyspraxia) 01/2018
1	Cerebellar Ataxia (Dysmetria) 01/2018
1	autosomal recessive 1 Spinocerebellar ataxia 01/2018
1	Alkaptonuria 01/2016
1	Deafness (Deaf Mutism) 03/2015
1	Hypertelorism 03/2015
1	Coloboma (Colobomas) 03/2015
1	Cerebrofrontofacial Syndrome 03/2015
1	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy) 08/2014
1	Mucopolysaccharidosis II (Hunter Syndrome) 09/2013
1	autosomal recessive Spastic paraplegia 26 07/2013
1	Prader-Willi Syndrome (Syndrome, Prader-Willi) 03/2013
1	Obesity 03/2013
1	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 12/2010

Drug/Important Bio-Agent (IBA)

7	EnzymesIBA 01/2022 - 05/2010
4	GlycosaminoglycansIBA 12/2017 - 05/2010
3	Retinaldehyde (Retinal)IBA 01/2021 - 03/2015
2	alpha-N-acetyl-D-glucosaminidase (alpha-N-acetylglucosaminidase)IBA 01/2024 - 01/2022
2	Biomarkers (Surrogate Marker)IBA 01/2021 - 01/2018
2	GalactosidasesIBA 09/2019 - 10/2016
2	Proteins (Proteins, Gene)FDA Link 01/2019 - 06/2015
1	CeroidIBA 05/2024
1	Heparitin Sulfate (Heparan Sulfate)IBA 01/2022
1	Hexosaminidases (Hexosaminidase)IBA 01/2022
1	sapropterin (tetrahydrobiopterin)FDA Link 09/2021
1	Phenylalanine (L-Phenylalanine)FDA Link 09/2021
1	GDAP proteinIBA 01/2021
1	AcidsIBA 11/2020
1	Oxidoreductases (Dehydrogenase)IBA 11/2020
1	LipidsIBA 01/2019
1	UDP-galactose translocatorIBA 01/2019
1	Levodopa (L Dopa)FDA LinkGeneric 10/2018
1	Fetal Proteins (Fetoprotein)IBA 01/2018
1	Serum AlbuminIBA 01/2018
1	mutalipocin IIIBA 11/2017
1	Actins (F Actin)IBA 03/2015
1	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 08/2014
1	AcetylgalactosamineIBA 05/2014
1	Iduronidase (alpha-L-Iduronidase)IBA 03/2014
1	Dermatan SulfateIBA 09/2013
1	Iduronic Acid (Iduronate)IBA 09/2013
1	GangliosidesIBA 07/2013
1	Brain-Derived Neurotrophic Factor (BDNF)IBA 03/2013
1	alpha-Galactosidase (Beano)IBA 06/2012
1	GlycosphingolipidsIBA 06/2012
1	Cerebroside-Sulfatase (Arylsulfatase A)IBA 12/2010

Therapy/Procedure

3	Enzyme Replacement Therapy 08/2014 - 05/2010
2	Therapeutics 05/2024 - 09/2021
1	Sutures (Suture) 03/2015