Chabas A - Search Results

1

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

Vervoort R, Islam MR, Sly WS, Zabot MT, Kleijer WJ, Chabas A, Fensom A, Young EP, Liebaers I, Lissens W. Vervoort R, et al. Among authors: chabas a. Am J Hum Genet. 1996 Mar;58(3):457-71. Am J Hum Genet. 1996. PMID: 8644704 Free PMC article.

2

A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.

Vervoort R, Islam MR, Sly W, Chabas A, Wevers R, de Jong J, Liebaers I, Lissens W. Vervoort R, et al. Among authors: chabas a. Am J Hum Genet. 1995 Oct;57(4):798-804. Am J Hum Genet. 1995. PMID: 7573038 Free PMC article.

3

Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.

Tomatsu S, Sukegawa K, Trandafirescu GG, Gutierrez MA, Nishioka T, Yamaguchi S, Orii T, Froissart R, Maire I, Chabas A, Cooper A, Di Natale P, Gal A, Noguchi A, Sly WS. Tomatsu S, et al. Among authors: chabas a. Eur J Hum Genet. 2006 Jul;14(7):838-45. doi: 10.1038/sj.ejhg.5201615. Epub 2006 Apr 12. Eur J Hum Genet. 2006. PMID: 16617305

4

Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population.

Chabás A, Castellvi S, Bayés M, Balcells S, Grinberg D, Vilageliu L, Marfany G, Lissens W, Gonzàlez-Duarte R. Chabás A, et al. Clin Genet. 1993 Dec;44(6):320-3. doi: 10.1111/j.1399-0004.1993.tb03908.x. Clin Genet. 1993. PMID: 8131304

5

Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.

Lugowska A, Amaral O, Berger J, Berna L, Bosshard NU, Chabas A, Fensom A, Gieselmann V, Gorovenko NG, Lissens W, Mansson JE, Marcao A, Michelakakis H, Bernheimer H, Ol'khovych NV, Regis S, Sinke R, Tylki-Szymanska A, Czartoryska B. Lugowska A, et al. Among authors: chabas a. Mol Genet Metab. 2005 Nov;86(3):353-9. doi: 10.1016/j.ymgme.2005.07.010. Epub 2005 Sep 2. Mol Genet Metab. 2005. PMID: 16140556

6

Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant.

Schepers U, Glombitza G, Lemm T, Hoffmann A, Chabas A, Ozand P, Sandhoff K. Schepers U, et al. Among authors: chabas a. Am J Hum Genet. 1996 Nov;59(5):1048-56. Am J Hum Genet. 1996. PMID: 8900233 Free PMC article.

7

Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.

Cormand B, Harboe TL, Gort L, Campoy C, Blanco M, Chamoles N, Chabás A, Vilageliu L, Grinberg D. Cormand B, et al. Among authors: chabas a. Am J Med Genet. 1998 Dec 4;80(4):343-51. doi: 10.1002/(sici)1096-8628(19981204)80:4<343::aid-ajmg8>3.0.co;2-w. Am J Med Genet. 1998. PMID: 9856561 Review.

8

Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.

Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll MJ, Grinberg D, Vilageliu L. Chabás A, et al. Am J Med Genet. 2001 May 1;100(3):223-8. doi: 10.1002/ajmg.1248. Am J Med Genet. 2001. PMID: 11343308

9

Gene symbol: IDS. Disease: Mucopolysaccharidosis II.

Oller Ramirez AM, Coll MJ, Chabás A, Azar NB, Ghio AV, Kremer RD. Oller Ramirez AM, et al. Among authors: chabas a. Hum Genet. 2008 Jun;123(5):545. Hum Genet. 2008. PMID: 20960627 No abstract available.

10

Low beta-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII.

Chabas A, Giros ML, Guardiola A. Chabas A, et al. J Inherit Metab Dis. 1991;14(6):908-14. doi: 10.1007/BF01800472. J Inherit Metab Dis. 1991. PMID: 1779649

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