Lucia Maria Wanzeller Guedes de Lacerda


AuthID: R-00H-25A

Publications Awaiting Confirmation

31
TITLE: Glycosaminoglycan storage disorders: A review  Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Alves, S;
PUBLISHED: 2012, SOURCE: Biochemistry Research International, VOLUME: 2012
INDEXED IN: Scopus CrossRef
IN MY: ORCID
32
TITLE: Alu-Alu recombination underlying the first large genomic deletion in GlcNAc-phosphotransferase alpha/beta (GNPTAB) gene in a MLII alpha/beta patient
AUTHORS: Maria Francisca Coutinho; Liliana da Silva Santos; Lúcia Lacerda; Sofia Quental; Flemming Wibrand; Allan M Lund; Klaus B Johansen; Maria João Prata ; Sandra Alves;
PUBLISHED: 2012, SOURCE: JIMD Reports, VOLUME: 4
INDEXED IN: Scopus CrossRef
IN MY: ORCID
33
TITLE: Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene
AUTHORS: Maria F Coutinho; Liliana da Silva Santos; K.M. Girisha; K. Satyamoorthy; Lúcia Lacerda; Maria J Prata; Sandra Alves;
PUBLISHED: 2012, SOURCE: American Journal of Medical Genetics Part A, VOLUME: 158A(5)
INDEXED IN: Handle
34
TITLE: Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient
AUTHORS: Maria F Coutinho; Liliana da Silva Santos; Lúcia Lacerda; Sofia Quental; F. Wibrand; A.M. Lund; K.B. Johansen; Maria J Prata; Sandra Alves;
PUBLISHED: 2012, SOURCE: JIMD Reports, VOLUME: 4
INDEXED IN: Handle
35
TITLE: Glycosaminoglycan Storage Disorders: a review
AUTHORS: Maria F Coutinho; Lúcia Lacerda; Sandra Alves;
PUBLISHED: 2011, SOURCE: Biochemistry Research International
INDEXED IN: Handle
36
TITLE: Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients
AUTHORS: Maria F Coutinho; Lúcia Lacerda; Sandra Macedo Ribeiro; Estela Baptista; Helena Ribeiro; Maria J Prata; Sandra Alves;
PUBLISHED: 2011, SOURCE: Clinical Genetics
INDEXED IN: Handle
37
TITLE: Biochemical analysis of GNPTAB missense mutations associated with ML II
AUTHORS: Liliana da Silva Santos; Maria F Coutinho; Katta M Girisha; Lúcia Lacerda; Barbara Tappino; Regis Stefano; Mirella Filocammo; Maria J Prata; Sandra Alves;
PUBLISHED: 2011, SOURCE: 18th ESGLD Workshop (European Study Group on Lysosomal Diseases),September 3-6, 2011
INDEXED IN: Handle
38
TITLE: Sortilin/Neurotensin Receptor 3: Three-dimensional Insights on its Coding Variants
AUTHORS: Maria F Coutinho; Liliana da Silva Santos; Lúcia Lacerda; Sandra Macedo Ribeiro; Maria J Prata; Sandra Alves;
PUBLISHED: 2011, SOURCE: VIII International Symposium SPDM, 3-4 November 2011
INDEXED IN: Handle
39
TITLE: Evidences of large deletions in patients with the Lysosomal Storage Diseases Mucolipidosis type II and III: experimental approaches for picking up both homozygous and heterozygous cases
AUTHORS: Maria F Coutinho; Marisa Encarnação; Filipa Carvalho; Lúcia Lacerda; Flemming Willbrand; Helena Ribeiro; Maria J Prata; Sandra Alves;
PUBLISHED: 2010, SOURCE: 14ª Reunião Anual da SPGH - Sociedade Portuguesa de Genética Humana, 18-20 Novembro 2010
INDEXED IN: Handle
40
TITLE: Novel method for picking up large heterozygous deletions with semiquantitative PCR in patients with mucolipidosis III alpha/beta
AUTHORS: Maria F Coutinho; Marisa Encarnação; Lúcia Lacerda; Helena Ribeiro; Maria J Prata; Sandra Alves;
PUBLISHED: 2010, SOURCE: EMBL Symposium Human Variation: Cause and Consequence, 20-23 June 2010
INDEXED IN: Handle
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