Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Charles M. Lourenco"'
Autor:
Isadora Andrade, River Ribeiro, Zumira A. Carneiro, Roberto Giugliani, Catarina Pereira, Claudia Cozma, Daniel Grinberg, Lluïsa Vilageliu, Charles M. Lourenco
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-5 (2022)
Abstract Background Mucopolysaccharidosis VI, or Maroteaux–Lamy disease, is an autosomal recessive disease characterized by deficiency of the enzyme arylsulfatase B in the lysosomal catabolism of glycosaminoglycans. Due to reduced (or even null) en
Externí odkaz:
https://doaj.org/article/6ddbc9dc239d45769128ef2220eba000
Autor:
Sara E. Mole, Angela Schulz, Eben Badoe, Samuel F. Berkovic, Emily C. de Los Reyes, Simon Dulz, Paul Gissen, Norberto Guelbert, Charles M. Lourenco, Heather L. Mason, Jonathan W. Mink, Noreen Murphy, Miriam Nickel, Joffre E. Olaya, Maurizio Scarpa, Ingrid E. Scheffer, Alessandro Simonati, Nicola Specchio, Ina Von Löbbecke, Raymond Y. Wang, Ruth E. Williams
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-19 (2021)
Abstract Background CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificit
Externí odkaz:
https://doaj.org/article/dca030d850824609987aa2702f2ac2b3
Autor:
Giulianna Baldini, José Fernando Palmejiani, João Pedro Bonevechio Sant'Anna, Zumira Aparecida Carneiro, Roberto Giugliani, Catarina Pereira, Claudia Cozma, Cara O’Neill, Charles M. Lourenco
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Abstract Sanfilippo syndrome or mucopolysaccharidosis III (MPS III), includes a group of four autosomal recessive lysosomal storage disorders caused by deficient activity of enzymes involved in the catabolism of heparan sulfate. The four types of MPS
Externí odkaz:
https://doaj.org/article/c349fbc6e12d44179aa0a778c4c81d07
Autor:
Juliana B. Taniguchi, Valeria M.C. Elui, Flavia L. Osorio, Jaime E.C. Hallak, Jose A.S. Crippa, Joao P. Machado-de-Sousa, Leonardo M. Kebbe, Charles M. Lourenco, Raquel M. Scarel-Caminaga, Wilson Marques Jr
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 71, Iss 6, Pp 392-396 (2013)
We assessed the functional impairment in Charcot-Marie-Tooth resulting from 17p11.2-p12 duplication (CMT1A) patients using the Short-Form Health Survey (SF-36), which is a quality of life questionnaire. Twenty-five patients of both genders aged ≥10
Externí odkaz:
https://doaj.org/article/277f0fd311ca4db8b6d4885d87afc901
Autor:
Shino, Shimada, Bobby G, Ng, Amy L, White, Kim K, Nickander, Coleman, Turgeon, Kristen L, Liedtke, Christina T, Lam, Esperanza, Font-Montgomery, Charles M, Lourenco, Miao, He, Dawn S, Peck, Luis A, Umana, Crescenda L, Uhles, Devon, Haynes, Patricia G, Wheeler, Michael J, Bamshad, Deborah A, Nickerson, Tom, Cushing, Ryan, Gates, Natalia, Gomez-Ospina, Heather M, Byers, Fernanda B, Scalco, Noelia N, Martinez, Rani, Sachdev, Lacey, Smith, Annapurna, Poduri, Stephen, Malone, Rebekah V, Harris, Ingrid E, Scheffer, Sergio D, Rosenzweig, David R, Adams, William A, Gahl, May Christine V, Malicdan, Kimiyo M, Raymond, Hudson H, Freeze, Xiaohong, Zhang
Publikováno v:
Journal of medical genetics.
PurposeTo summarise the clinical, molecular and biochemical phenotype of mannosyl-oligosaccharide glucosidase-related congenital disorders of glycosylation (MOGS-CDG), which presents with variable clinical manifestations, and to analyse which clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67d43987ae7f70e65c7c9e2d98568529
https://pubmed.ncbi.nlm.nih.gov/35790351
https://pubmed.ncbi.nlm.nih.gov/35790351
Autor:
Francyne Kubaski, Alberto Burlina, Danilo Pereira, Camilo Silva, Zackary M. Herbst, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Edina Poletto, Tamires M. Bernardes, Gerson S. Carvalho, Ney B. Sorte, Fernanda N. Ferreira, Nilza Perin, Marta R. Clivati, Marnie T. S. de Santana, Sandra F. G. Lobos, Emilia K. E. A. Leão, Marcelo P. Coutinho, Paola V. Pinos, Maria L. S. F. Santos, Debora A. Penatti, Charles M. Lourenço, Giulia Polo, Roberto Giugliani
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)
Abstract Background Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyelin (LysoSM) is the de
Externí odkaz:
https://doaj.org/article/1013ea20819c42278d1b94181b7a75d1
Autor:
Danielle R. Azzariti, Claudia Sommer, Allison Kanakis, Lisa Cloonan, Nurcan Üçeyler, György A. Homola, Juan Politei, Kaitlin Fitzpatrick, Katherine B. Sims, Virginia Clarke, Natalia S. Rost, Dominique P. Germain, Charles M. Lourenco
Objective: Using a semiautomated volumetric MRI assessment method, we aimed to identify determinants of white matter hyperintensity (WMH) burden in patients with Fabry disease (FD). Methods: Patients with confirmed FD and brain MRI available for this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8099fd87cf74e7952f0c591caa44f3ad
https://europepmc.org/articles/PMC4873685/
https://europepmc.org/articles/PMC4873685/
Autor:
Gabriel Civallero, Francyne Kubaski, Danilo Pereira, Gabriel Rübensam, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Edina Poletto, Larissa Faqueti, Gabrielle Iop, Juliano Soares, Vanessa van der Linden, Helio van der Linden, Charles M. Lourenço, Roberto Giugliani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 34, Iss , Pp 100945- (2023)
Externí odkaz:
https://doaj.org/article/406b9bb4aec246ce8befa5dec9f86fa8
Autor:
Francyne Kubaski, Zackary M. Herbst, Danilo A.A. Pereira, Camilo Silva, Christine Chen, Paul W.L. Hwu, Helio van der Linden, Charles M. Lourenço, Roberto Giugliani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100943- (2022)
Externí odkaz:
https://doaj.org/article/71831150dee1482697ce1b6ce5595302
Autor:
Gabriel Civallero, Francyne Kubaski, Danilo Pereira, Gabriel Rübensam, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Edina Poletto, Larissa Faqueti, Gabrielle Iop, Juliano Soares, Vanessa van der Linden, Helio van der Linden, Charles M. Lourenço, Roberto Giugliani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100888- (2022)
Aromatic l-amino acid decarboxylase (AADC, EC 4.1.1.28) deficiency is a rare genetic disorder characterized by developmental delay, oculogyric crises, autonomic dysfunction and other problems, caused by biallelic mutations in the DDC gene leading to
Externí odkaz:
https://doaj.org/article/a1d507af4e944e219f4ad7abb6ceaf12