Charles Marques Lourenço (Charles M Lourenço, Charles Lourenco)

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 17

Top Topics

Peritoneal Dialysis

Ejection Fraction

Top Venues

Journal of inherited metabolic disease

Arquivos brasileiros de cardiologia

Arquivos de neuro-psiquiatria

This page only lists publications with an associated author ORCID identifier.

Publications

Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira, Paula Natale Girotto, Fernando Kok, Daniel Reda Fenga Vilela, Erika Barron, Andre Luis Santos Pessoa, Bibiana Mello de Oliveira
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease. Arquivos de neuro-psiquiatria 82 (5) (2024)
Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira, Paula Natale Girotto, Fernando Kok, Daniel Reda Fenga Vilela, Erika Barron, Andre Luis Santos Pessoa, Bibiana Mello de Oliveira
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease. Arquivos de neuro-psiquiatria 82 (5) (2024)
Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira, Paula Natale Girotto, Fernando Kok, Daniel Reda Fenga Vilela, Erika Barron, Andre Luis Santos Pessoa, Bibiana Mello de Oliveira
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease. Arquivos de neuro-psiquiatria 82 (5) (2024)
Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, Irene Chang, Dana L Goldner, Bobby G Ng, Peter Witters, Amal Aqul, Frances Velez-Bartolomei, Gregory M Enns, Evelyn Hsu, Elizabeth Kichula, Esther Lee, Charles Marques Lourenço, Sheri A Poskanzer, Sara Rasmussen, Katelyn Saarela, YunZu M Wang, Kimiyo M Raymond, Matthew J Schultz, Hudson H Freeze, Christina Lam, Andrew C Edmondson, Miao He
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association. Journal of inherited metabolic disease (2023)
Maria Cristina de Oliveira Izar, Raul Dias Dos Santos Filho, Marcelo Heitor Vieira Assad, Antonio Carlos Palandri Chagas, Alceu de Oliveira Toledo Júnior, Ana Cláudia Cavalcante Nogueira, Ana Cristina Carneiro Fernandes Souto, Ana Maria Pitta Lottenberg, Ana Paula Marte Chacra, Carlos Eduardo Dos Santos Ferreira, Charles Marques Lourenço, Cynthia Melissa Valerio, Dennys Esper Corrêa Cintra, Francisco Antônio Helfenstein Fonseca, Gustavo Aguiar Campana, Henrique Tria Bianco, Josivan Gomes de Lima, Maria Helane Costa Gurgel Castelo, Marileia Scartezini, Miguel Antonio Moretti, Natasha Slhessarenko Fraife Barreto, Rayana Elias Maia, Renan Magalhães Montenegro Júnior, Renato Jorge Alves, Roberta Marcondes Machado Figueiredo, Rodrigo Ambrosio Fock, Tania Leme da Rocha Martinez
Brazilian Position Statement for Familial Chylomicronemia Syndrome - 2023. Arquivos brasileiros de cardiologia 120 (4) (2023)
Maria Cristina de Oliveira Izar, Raul Dias Dos Santos Filho, Marcelo Heitor Vieira Assad, Antonio Carlos Palandri Chagas, Alceu de Oliveira Toledo Júnior, Ana Cláudia Cavalcante Nogueira, Ana Cristina Carneiro Fernandes Souto, Ana Maria Pitta Lottenberg, Ana Paula Marte Chacra, Carlos Eduardo Dos Santos Ferreira, Charles Marques Lourenço, Cynthia Melissa Valerio, Dennys Esper Corrêa Cintra, Francisco Antônio Helfenstein Fonseca, Gustavo Aguiar Campana, Henrique Tria Bianco, Josivan Gomes de Lima, Maria Helane Costa Gurgel Castelo, Marileia Scartezini, Miguel Antonio Moretti, Natasha Slhessarenko Fraife Barreto, Rayana Elias Maia, Renan Magalhães Montenegro Júnior, Renato Jorge Alves, Roberta Marcondes Machado Figueiredo, Rodrigo Ambrosio Fock, Tania Leme da Rocha Martinez
Brazilian Position Statement for Familial Chylomicronemia Syndrome - 2023. Arquivos brasileiros de cardiologia 120 (4) (2023)
Maria Cristina de Oliveira Izar, Raul Dias Dos Santos Filho, Marcelo Heitor Vieira Assad, Antonio Carlos Palandri Chagas, Alceu de Oliveira Toledo Júnior, Ana Cláudia Cavalcante Nogueira, Ana Cristina Carneiro Fernandes Souto, Ana Maria Pitta Lottenberg, Ana Paula Marte Chacra, Carlos Eduardo Dos Santos Ferreira, Charles Marques Lourenço, Cynthia Melissa Valerio, Dennys Esper Corrêa Cintra, Francisco Antônio Helfenstein Fonseca, Gustavo Aguiar Campana, Henrique Tria Bianco, Josivan Gomes de Lima, Maria Helane Costa Gurgel Castelo, Marileia Scartezini, Miguel Antonio Moretti, Natasha Slhessarenko Fraife Barreto, Rayana Elias Maia, Renan Magalhães Montenegro Júnior, Renato Jorge Alves, Roberta Marcondes Machado Figueiredo, Rodrigo Ambrosio Fock, Tania Leme da Rocha Martinez
Brazilian Position Statement for Familial Chylomicronemia Syndrome - 2023. Arquivos brasileiros de cardiologia 120 (4) (2023)
Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, Irene Chang, Dana L Goldner, Bobby G Ng, Peter Witters, Amal Aqul, Frances Velez-Bartolomei, Gregory M Enns, Evelyn Hsu, Elizabeth Kichula, Esther Lee, Charles Marques Lourenço, Sheri A Poskanzer, Sara Rasmussen, Katelyn Saarela, YunZu M Wang, Kimiyo M Raymond, Matthew J Schultz, Hudson H Freeze, Christina Lam, Andrew C Edmondson, Miao He
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association. Journal of inherited metabolic disease 46 (2) (2023)
Maria Cristina de Oliveira Izar, Raul Dias Dos Santos Filho, Marcelo Heitor Vieira Assad, Antonio Carlos Palandri Chagas, Alceu de Oliveira Toledo Júnior, Ana Cláudia Cavalcante Nogueira, Ana Cristina Carneiro Fernandes Souto, Ana Maria Pitta Lottenberg, Ana Paula Marte Chacra, Carlos Eduardo Dos Santos Ferreira, Charles Marques Lourenço, Cynthia Melissa Valerio, Dennys Esper Corrêa Cintra, Francisco Antônio Helfenstein Fonseca, Gustavo Aguiar Campana, Henrique Tria Bianco, Josivan Gomes de Lima, Maria Helane Costa Gurgel Castelo, Marileia Scartezini, Miguel Antonio Moretti, Natasha Slhessarenko Fraife Barreto, Rayana Elias Maia, Renan Magalhães Montenegro Júnior, Renato Jorge Alves, Roberta Marcondes Machado Figueiredo, Rodrigo Ambrosio Fock, Tania Leme da Rocha Martinez
Brazilian Position Statement for Familial Chylomicronemia Syndrome - 2023. Arquivos brasileiros de cardiologia 120 (4) (2023)
Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, Irene Chang, Dana L Goldner, Bobby G Ng, Peter Witters, Amal Aqul, Frances Velez-Bartolomei, Gregory M Enns, Evelyn Hsu, Elizabeth Kichula, Esther Lee, Charles Marques Lourenço, Sheri A Poskanzer, Sara Rasmussen, Katelyn Saarela, YunZu M Wang, Kimiyo M Raymond, Matthew J Schultz, Hudson H Freeze, Christina Lam, Andrew C Edmondson, Miao He
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association. Journal of inherited metabolic disease (2023)
Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, Irene Chang, Dana L Goldner, Bobby G Ng, Peter Witters, Amal Aqul, Frances Velez-Bartolomei, Gregory M Enns, Evelyn Hsu, Elizabeth Kichula, Esther Lee, Charles Marques Lourenço, Sheri A Poskanzer, Sara Rasmussen, Katelyn Saarela, YunZu M Wang, Kimiyo M Raymond, Matthew J Schultz, Hudson H Freeze, Christina Lam, Andrew C Edmondson, Miao He
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association. Journal of inherited metabolic disease (2023)
Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, Irene Chang, Dana L Goldner, Bobby G Ng, Peter Witters, Amal Aqul, Frances Velez-Bartolomei, Gregory M Enns, Evelyn Hsu, Elizabeth Kichula, Esther Lee, Charles Marques Lourenço, Sheri A Poskanzer, Sara Rasmussen, Katelyn Saarela, YunZu M Wang, Kimiyo M Raymond, Matthew J Schultz, Hudson H Freeze, Christina Lam, Andrew C Edmondson, Miao He
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association. Journal of inherited metabolic disease 46 (2) (2023)
Charles Marques Lourenço, Janaina Dovidio, Isabela F Lopes, Laís C Silva, Marcela Almeida, Laura Vagnini, Jacqueline Fonseca, Zumira A Carneiro, Beat Thöny
Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil. JIMD reports 61 (1) (2021)
Lila Allou, Sara Balzano, Andreas Magg, Mathieu Quinodoz, Beryl Royer-Bertrand, Robert Schöpflin, Wing-Lee Chan, Carlos E Speck-Martins, Daniel Rocha Carvalho, Luciano Farage, Charles Marques Lourenço, Regina Albuquerque, Srilakshmi Rajagopal, Sheela Nampoothiri, Belinda Campos-Xavier, Carole Chiesa, Florence Niel-Bütschi, Lars Wittler, Bernd Timmermann, Malte Spielmann, Michael I Robson, Alessa Ringel, Verena Heinrich, Giulia Cova, Guillaume Andrey, Cesar A Prada-Medina, Rosanna Pescini Gobert, Sheila Unger, Luisa Bonafé, Phillip Grote, Carlo Rivolta, Stefan Mundlos, Andrea Superti-Furga
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature 592 (7852) (2021)
Frederico Mendes Borges, Maria Júlia Gonzalez da Costa, Zumira Aparecida Carneiro, Charles Marques Lourenço
Metachromatic leukodystrophy: pediatric presentation and the challenges of early diagnosis. Revista da Associacao Medica Brasileira (1992) 66 (10) (2021)
Ana Vitoria Barban Margutti, Wilson Araújo da Silva Junior, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Tatiana Amorim, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, Emerson de Santana Santos, Mara Lucia Schmitz Ferreira Santos, Charles Marques Lourenço, Tássia Tonon, Fernanda Sperb-Ludwig, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, José Simon Camelo
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity. Orphanet journal of rare diseases 15 (1) (2020)
Emma M Jenkinson, Mathieu P Rodero, Paul R Kasher, Carolina Uggenti, Anthony Oojageer, Laurence C Goosey, Yoann Rose, Christopher J Kershaw, Jill E Urquhart, Simon G Williams, Sanjeev S Bhaskar, James O'Sullivan, Gabriela M Baerlocher, Monika Haubitz, Geraldine Aubert, Kristin W Barañano, Angela J Barnicoat, Roberta Battini, Andrea Berger, Edward M Blair, Janice E Brunstrom-Hernandez, Johannes A Buckard, David M Cassiman, Rosaline Caumes, Duccio Maria Cordelli, Liesbeth M De Waele, Alexander J Fay, Patrick Ferreira, Nicholas A Fletcher, Alan E Fryer, Himanshu Goel, Cheryl A Hemingway, Marco Henneke, Imelda Hughes, Rosalind J Jefferson, Ram Kumar, Lieven Lagae, Pierre G Landrieu, Charles Marques Lourenço, Timothy J Malpas, Sarju G Mehta, Imke Metz, Sakkubai Naidu, Katrin Õunap, Axel Panzer, Prab Prabhakar, Gerardine Quaghebeur, Raphael Schiffmann, Elliott H Sherr, Kanaga R Sinnathuray, Calvin Soh, Helen S Stewart, John Stone, Hilde Van Esch, Christine E G Van Mol, Adeline Vanderver, Emma L Wakeling, Andrea Whitney, Graham D Pavitt, Sam Griffiths-Jones, Gillian I Rice, Patrick Revy, Marjo S van der Knaap, John H Livingston, Raymond T O'Keefe, Yanick J Crow
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nature genetics 48 (10) (2016)