Ribeiro ML - Search Results

1

Population genetics of four PKLR intragenic polymorphisms in Portugal and São Tomé e Príncipe (Gulf of Guinea).

Manco L, Oliveira AL, Gomes C, Granjo A, de Jesus Trovoada M, Ribeiro ML, Abade A, Amorim A. Manco L, et al. Among authors: ribeiro ml. Hum Biol. 2001 Jun;73(3):467-74. doi: 10.1353/hub.2001.0037. Hum Biol. 2001. PMID: 11459427

2

PK-LR gene mutations in pyruvate kinase deficient Portuguese patients.

Manco L, Ribeiro ML, Almeida H, Freitas O, Abade A, Tamagnini G. Manco L, et al. Among authors: ribeiro ml. Br J Haematol. 1999 Jun;105(3):591-5. doi: 10.1046/j.1365-2141.1999.01387.x. Br J Haematol. 1999. PMID: 10354117 Free article.

3

A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency.

Manco L, Ribeiro ML, Máximo V, Almeida H, Costa A, Freitas O, Barbot J, Abade A, Tamagnini G. Manco L, et al. Among authors: ribeiro ml. Br J Haematol. 2000 Sep;110(4):993-7. doi: 10.1046/j.1365-2141.2000.02283.x. Br J Haematol. 2000. PMID: 11054094 Free article.

4

Novel human pathological mutations. Gene symbol: G6PD. Disease: glucose-6-phosphate dehydrogenase deficiency.

Manco L, Ribeiro ML. Manco L, et al. Among authors: ribeiro ml. Hum Genet. 2007 Jun;121(5):646. Hum Genet. 2007. PMID: 17879434 No abstract available.

5

Novel human pathological mutations. Gene symbol: TPI1. Disease: triosephosphate isomerase deficiency.

Manco L, Ribeiro ML. Manco L, et al. Among authors: ribeiro ml. Hum Genet. 2007 Jun;121(5):650. Hum Genet. 2007. PMID: 17879449 No abstract available.

6

Gene symbol: NT5C3. Disease: haemolytic anemia.

Manco L, Pereira J, Bento MC, Ribeiro ML. Manco L, et al. Among authors: ribeiro ml. Hum Genet. 2005 Dec;118(3-4):534. doi: 10.1007/s00439-005-0040-x. Hum Genet. 2005. PMID: 16402212 No abstract available.

7

Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene.

Jaouani M, Manco L, Kalai M, Chaouch L, Douzi K, Silva A, Macedo S, Darragi I, Boudriga I, Chaouachi D, Fitouri Z, Van Wijk R, Ribeiro ML, Abbes S. Jaouani M, et al. Among authors: ribeiro ml. Int J Lab Hematol. 2017 Apr;39(2):223-231. doi: 10.1111/ijlh.12610. Epub 2017 Jan 30. Int J Lab Hematol. 2017. PMID: 28133914

8

Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population.

Manco L, Bento C, Relvas L, Maia T, Ribeiro ML. Manco L, et al. Among authors: ribeiro ml. Acta Med Port. 2023 Feb 1;36(2):81-87. doi: 10.20344/amp.17584. Epub 2022 Sep 23. Acta Med Port. 2023. PMID: 36150187 Free article.

9

Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency.

Pereira J, Bento C, Manco L, Gonzalez A, Vagace J, Ribeiro ML. Pereira J, et al. Among authors: ribeiro ml. Ann Hematol. 2016 Sep;95(9):1551-3. doi: 10.1007/s00277-016-2720-0. Epub 2016 Jun 24. Ann Hematol. 2016. PMID: 27342114 No abstract available.

10

Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study.

Fidalgo T, Martinho P, Salvado R, Manco L, Oliveira AC, Pinto CS, Gonçalves E, Marques D, Sevivas T, Martins N, Ribeiro ML. Fidalgo T, et al. Among authors: ribeiro ml. Eur J Haematol. 2015 Oct;95(4):294-307. doi: 10.1111/ejh.12488. Epub 2015 Mar 13. Eur J Haematol. 2015. PMID: 25533856

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