Ribeiro HM - Search Results

1

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

2

Characterization of the isoenzyme profile of beta-N-acetylhexosaminidase in the urine of newborns.

Pérez LF, Martínez MI, Ribeiro HM, Pinto RA, Miranda MC, Tutor JC. Pérez LF, et al. Among authors: ribeiro hm. Clin Chem Lab Med. 1999 Jul;37(7):765-9. doi: 10.1515/CCLM.1999.117. Clin Chem Lab Med. 1999. PMID: 10510735

3

Prenatal diagnosis of GM2-gangliosidosis B1 variant.

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

4

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. 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.

5

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. Eur J Hum Genet. 2004 Feb;12(2):87-92. doi: 10.1038/sj.ejhg.5201044. Eur J Hum Genet. 2004. PMID: 14685153

6

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. 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

7

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. 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

8

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. Clin Genet. 2009 Jul;76(1):76-84. doi: 10.1111/j.1399-0004.2009.01185.x. Clin Genet. 2009. PMID: 19659762

9

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. Clin Genet. 2015 Aug;88(2):190-4. doi: 10.1111/cge.12469. Epub 2014 Sep 17. Clin Genet. 2015. PMID: 25088547

10

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. 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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

75 results

Search Page

Filters