41
TITLE: Molecular characterization of maple syrup urine disease patients from Tunisia  Full Text
AUTHORS: Jaafar, N; Moleirinho, A; Kerkeni, E; Monastiri, K; Seboui, H; Amorim, Antonio ; Prata, MJ ; Quental, S ;
PUBLISHED: 2013, SOURCE: GENE, VOLUME: 517, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 10
42
TITLE: Sortilin and the risk of cardiovascular disease
AUTHORS: Maria Francisca Coutinho; Mafalda Bourbon ; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2013, SOURCE: REVISTA PORTUGUESA DE CARDIOLOGIA, VOLUME: 32, ISSUE: 10
INDEXED IN: Scopus WOS
IN MY: ORCID
43
TITLE: Sortilina e risco de doença cardiovascular
AUTHORS: Maria Francisca Coutinho; Mafalda Bourbon; Maria João Prata ; Sandra Alves;
PUBLISHED: 2013, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 32, ISSUE: 10
INDEXED IN: CrossRef: 5
IN MY: ORCID
44
TITLE: A method for the analysis of 32 X chromosome insertion deletion polymorphisms in a single PCR  Full Text
AUTHORS: Rui Pereira ; Vania Pereira; Iva Gomes; Carmen Tomas; Niels Morling; Amorim, Antonio ; Maria Joao Prata ; Angel Carracedo; Leonor Gusmao ;
PUBLISHED: 2012, SOURCE: INTERNATIONAL JOURNAL OF LEGAL MEDICINE, VOLUME: 126, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 40
45
TITLE: A shortcut to the lysosome: The mannose-6-phosphate-independent pathway  Full Text
AUTHORS: Maria Francisca Coutinho; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 107, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 81
46
TITLE: Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients  Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Macedo Ribeiro, S ; Baptista, E; Ribeiro, H; Prata, MJ ; Alves, S;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 10
47
TITLE: Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction  Full Text
AUTHORS: Maria Francisca Coutinho; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 105, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 169
48
TITLE: Mucolipidosis type II a/ss with a homozygous missense mutation in the GNPTAB gene  Full Text
AUTHORS: Maria Francisca Coutinho; Liliana da Silva Santos; Katta Mohan Girisha; Kapaettu Satyamoorthy; Lucia Lacerda; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 158A, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 10
49
TITLE: Refining the genetic portrait of Portuguese Roma through X-chromosomal markers  Full Text
AUTHORS: Vania Pereira; Leonor Gusmao ; Cristina Valente; Rui Pereira ; Joao Carneiro ; Iva Gomes; Niels Morling; Amorim, Antonio ; Maria Joao Prata ;
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, VOLUME: 148, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 8
50
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: 2011, SOURCE: JIMD Reports - JIMD Reports - Case and Research Reports, 2012/1
INDEXED IN: CrossRef: 4
IN MY: ORCID
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