Ribeiro H - Search Results

1

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.

Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S. Encarnação M, et al. Among authors: ribeiro h. Clin Genet. 2009 Jul;76(1):76-84. doi: 10.1111/j.1399-0004.2009.01185.x. Clin Genet. 2009. PMID: 19659762

2

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients.

Coutinho MF, Lacerda L, Macedo-Ribeiro S, Baptista E, Ribeiro H, Prata MJ, Alves S. Coutinho MF, et al. Among authors: ribeiro h. Clin Genet. 2012 Apr;81(4):379-93. doi: 10.1111/j.1399-0004.2011.01625.x. Epub 2011 Mar 1. Clin Genet. 2012. PMID: 21214877

3

Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking.

Coutinho MF, Lacerda L, Pinto E, Ribeiro H, Macedo-Ribeiro S, Castro L, Prata MJ, Alves S. Coutinho MF, et al. Among authors: ribeiro h. Clin Genet. 2015 Aug;88(2):190-4. doi: 10.1111/cge.12469. Epub 2014 Sep 17. Clin Genet. 2015. PMID: 25088547

4

Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations.

Alves S, Mangas M, Prata MJ, Ribeiro G, Lopes L, Ribeiro H, Pinto-Basto J, Lima MR, Lacerda L. Alves S, et al. Among authors: ribeiro h, ribeiro g. J Inherit Metab Dis. 2006 Dec;29(6):743-54. doi: 10.1007/s10545-006-0403-z. Epub 2006 Oct 25. J Inherit Metab Dis. 2006. PMID: 17063374

5

Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene.

Coutinho MF, Lacerda L, Prata MJ, Ribeiro H, Lopes L, Ferreira C, Alves S. Coutinho MF, et al. Among authors: ribeiro h. Clin Genet. 2008 Aug;74(2):194-5. doi: 10.1111/j.1399-0004.2008.01040.x. Epub 2008 Jun 2. Clin Genet. 2008. PMID: 18518886 No abstract available.

6

Prevalence of lysosomal storage diseases in Portugal.

Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, Pinto E, Silva E, Rocha S, Marcão A, Ribeiro I, Lacerda L, Ribeiro G, Amaral O, Sá Miranda MC. Pinto R, et al. Among authors: ribeiro h, ribeiro i, ribeiro g. Eur J Hum Genet. 2004 Feb;12(2):87-92. doi: 10.1038/sj.ejhg.5201044. Eur J Hum Genet. 2004. PMID: 14685153

7

Prenatal diagnosis of GM2-gangliosidosis B1 variant.

Lemos M, Pinto R, Ribeiro G, Ribeiro H, Lopes L, Sá Miranda MC. Lemos M, et al. Among authors: ribeiro h, ribeiro g. Prenat Diagn. 1995 Jun;15(6):585-8. doi: 10.1002/pd.1970150614. Prenat Diagn. 1995. PMID: 7659693

8

Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.

Ribeiro MG, Sonin T, Pinto RA, Fontes A, Ribeiro H, Pinto E, Palmeira MM, Sá Miranda MC. Ribeiro MG, et al. Among authors: ribeiro h. J Med Genet. 1996 Apr;33(4):341-3. doi: 10.1136/jmg.33.4.341. J Med Genet. 1996. PMID: 8730294 Free PMC article.

9

Should we use papilla morphology to estimate the size of the terminal common bile duct during endoscopic retrograde cholangiopancreatography?

Lopes L, Canena J, Fernandes J, Moreira M, Costa I, Gomes-Fonseca J, Araújo T, Alexandrino G, Lourenço L, Horta D, Giestas S, Ribeiro H, Ramada J, Familiari P, Dinis-Ribeiro M. Lopes L, et al. Among authors: ribeiro h. Eur J Gastroenterol Hepatol. 2020 Feb;32(2):181-186. doi: 10.1097/MEG.0000000000001623. Eur J Gastroenterol Hepatol. 2020. PMID: 31834048

10

Thermodynamic characterisation of the mutated isoenzyme A of beta-N-acetylhexosaminidase in GM2-gangliosidosis B1 variant.

Pérez LF, Ribeiro HM, Casal JA, Pinto RA, Sá Miranda MC, Tutor JC. Pérez LF, et al. Among authors: ribeiro hm. Clin Chim Acta. 1999 Jul;285(1-2):45-51. doi: 10.1016/s0009-8981(99)00086-8. Clin Chim Acta. 1999. PMID: 10481922

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