Lucia Maria Wanzeller Guedes de Lacerda
AuthID: R-00H-25A
11
TITLE: Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil
AUTHORS: Neto, EV; Laranjeira, F ; Quelhas, D; Ribeiro, I; Seabra, A; Mineiro, N; Carvalho, LDM; Lacerda, L; Ribeiro, MG;
PUBLISHED: 2018, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 6, ISSUE: 4
AUTHORS: Neto, EV; Laranjeira, F ; Quelhas, D; Ribeiro, I; Seabra, A; Mineiro, N; Carvalho, LDM; Lacerda, L; Ribeiro, MG;
PUBLISHED: 2018, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 6, ISSUE: 4
12
TITLE: Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil
AUTHORS: Eduardo Vieira Neto; Francisco Laranjeira; Dulce Quelhas; Isaura Ribeiro; Alexandre Seabra; Nicole Mineiro; Lilian d M Carvalho; Lúcia Lacerda; Márcia G Ribeiro;
PUBLISHED: 2018, SOURCE: Molecular Genetics and Genomic Medicine, VOLUME: 6, ISSUE: 4
AUTHORS: Eduardo Vieira Neto; Francisco Laranjeira; Dulce Quelhas; Isaura Ribeiro; Alexandre Seabra; Nicole Mineiro; Lilian d M Carvalho; Lúcia Lacerda; Márcia G Ribeiro;
PUBLISHED: 2018, SOURCE: Molecular Genetics and Genomic Medicine, VOLUME: 6, ISSUE: 4
INDEXED IN: 
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ORCID
ORCID13
TITLE: Screening for Pompe disease in a Portuguese high risk population
AUTHORS: Almeida, V; Conceicao, I; Fineza, I; Coelho, T; Silveira, F; Santos, M; Valverde, A; Geraldo, A; Mare, R; Aguiar, TC; Mendonca, C; Martins, J; Medeiros, L; Barroso, C; Vieira, JP; Moreno, T; Negrao, L; Dias, MS; Lacerda, L; Evangelista, T;
PUBLISHED: 2017, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 27, ISSUE: 8
AUTHORS: Almeida, V; Conceicao, I; Fineza, I; Coelho, T; Silveira, F; Santos, M; Valverde, A; Geraldo, A; Mare, R; Aguiar, TC; Mendonca, C; Martins, J; Medeiros, L; Barroso, C; Vieira, JP; Moreno, T; Negrao, L; Dias, MS; Lacerda, L; Evangelista, T;
PUBLISHED: 2017, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 27, ISSUE: 8
14
TITLE: Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta
AUTHORS: Coutinho, MF; Encarnacao, M; Laranjeira, F ; Lacerda, L; Prata, MJ ; Alves, S;
PUBLISHED: 2016, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 29, ISSUE: 10
AUTHORS: Coutinho, MF; Encarnacao, M; Laranjeira, F ; Lacerda, L; Prata, MJ ; Alves, S;
PUBLISHED: 2016, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 29, ISSUE: 10
15
TITLE: Infantile refsum disease: Influence of dietary treatment on plasma phytanic acid levels
AUTHORS: Sá, MJN; Rocha, JC; Almeida, MF; Carmona, C; Martins, E ; Miranda, V; Coutinho, M; Ferreira, R; Pacheco, S; Laranjeira, F ; Ribeiro, I; Fortuna, AM; Lacerda, L;
PUBLISHED: 2016, SOURCE: JIMD Reports, VOLUME: 26
AUTHORS: Sá, MJN; Rocha, JC; Almeida, MF; Carmona, C; Martins, E ; Miranda, V; Coutinho, M; Ferreira, R; Pacheco, S; Laranjeira, F ; Ribeiro, I; Fortuna, AM; Lacerda, L;
PUBLISHED: 2016, SOURCE: JIMD Reports, VOLUME: 26
16
TITLE: D-Bifunctional Protein Deficiency: A Cause of Neonatal Onset Seizures and Hypotonia Full Text
AUTHORS: Joao Nascimento; Ceu Mota; Lucia Lacerda; Sara Pacheco; Rui Chorao; Esmeralda Martins ; Cristina Garrido;
PUBLISHED: 2015, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 52, ISSUE: 5
AUTHORS: Joao Nascimento; Ceu Mota; Lucia Lacerda; Sara Pacheco; Rui Chorao; Esmeralda Martins ; Cristina Garrido;
PUBLISHED: 2015, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 52, ISSUE: 5
17
TITLE: Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking. Analyses of M6P-independent trafficking genes Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Pinto, E; Ribeiro, H; Macedo Ribeiro, S; Castro, L; Prata, MJ ; Alves, S;
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 88, ISSUE: 2
AUTHORS: Coutinho, MF; Lacerda, L; Pinto, E; Ribeiro, H; Macedo Ribeiro, S; Castro, L; Prata, MJ ; Alves, S;
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 88, ISSUE: 2
18
TITLE: Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation
AUTHORS: Tomás, J; Durães, J; Lacerda, L; Macário, MC;
PUBLISHED: 2015, SOURCE: BMJ Case Reports, VOLUME: 2015
AUTHORS: Tomás, J; Durães, J; Lacerda, L; Macário, MC;
PUBLISHED: 2015, SOURCE: BMJ Case Reports, VOLUME: 2015
19
TITLE: Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders Full Text
AUTHORS: Ana Fernandez Marmiesse; Marcos Morey; Merce Pineda; Jesus Eiris; Maria L Luz Couce; Manuel Castro Gago; Jose M Maria Fraga; Lucia Lacerda; Sofia Gouveia; Maria S Socorro Perez Poyato; Judith Armstrong; Daisy Castineiras; Jose A Cocho;
PUBLISHED: 2014, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 9, ISSUE: 1
AUTHORS: Ana Fernandez Marmiesse; Marcos Morey; Merce Pineda; Jesus Eiris; Maria L Luz Couce; Manuel Castro Gago; Jose M Maria Fraga; Lucia Lacerda; Sofia Gouveia; Maria S Socorro Perez Poyato; Judith Armstrong; Daisy Castineiras; Jose A Cocho;
PUBLISHED: 2014, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 9, ISSUE: 1
INDEXED IN: Scopus 
WOS
Scopus WOS IN MY: ORCID
ORCID20
TITLE: Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations Full Text
AUTHORS: Morrone, A; Tylee, KL; Al Sayed, M; Brusius Facchin, AC; Caciotti, A; Church, HJ; Coll, MJ; Davidson, K; Fietz, MJ; Gort, L; Hegde, M; Kubaski, F; Lacerda, L; Laranjeira, F ; Leistner Segal, S; Mooney, S; Pajares, S; Pollard, L; Ribeiro, I; Wang, RY; ...More
PUBLISHED: 2014, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 112, ISSUE: 2
AUTHORS: Morrone, A; Tylee, KL; Al Sayed, M; Brusius Facchin, AC; Caciotti, A; Church, HJ; Coll, MJ; Davidson, K; Fietz, MJ; Gort, L; Hegde, M; Kubaski, F; Lacerda, L; Laranjeira, F ; Leistner Segal, S; Mooney, S; Pajares, S; Pollard, L; Ribeiro, I; Wang, RY; ...More
PUBLISHED: 2014, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 112, ISSUE: 2
