Literature DB >> 8982958

Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain.

A Chabás1, B Cormand, S Balcells, R González-Duarte, C Casanova, J Colomer, L Vilageliu, D Grinberg.   

Abstract

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Year:  1996        PMID： 8982958     DOI： 10.1007/bf01799179

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

1.  Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

Authors:  A Chabás; B Cormand; D Grinberg; J M Burguera; S Balcells; J L Merino; I Mate; J A Sobrino; R Gonzàlez-Duarte; L Vilageliu
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

2.  Three unique base pair changes in a family with Gaucher disease.

Authors:  N Eyal; N Firon; S Wilder; E H Kolodny; M Horowitz
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

3.  Glucocerebrosidase mutations in Gaucher disease.

Authors:  E Beutler; A Demina; T Gelbart
Journal:  Mol Med       Date:  1994-11       Impact factor: 6.354

4.  Gaucher disease in Spanish patients: analysis of eight mutations.

Authors:  B Cormand; L Vilageliu; J M Burguera; S Balcells; R Gonzàlez-Duarte; D Grinberg; A Chabás
Journal:  Hum Mutat       Date:  1995       Impact factor: 4.878
  4 in total
  4 in total

Review 1.  Gaucher disease.

Authors:  Aabha Nagral
Journal:  J Clin Exp Hepatol       Date:  2014-04-21

2.  Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis.

Authors:  Ankur Singh; Rajniti Prasad; Om Prakash Mishra
Journal:  J Pediatr Genet       Date:  2020-01-02

3.  Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.

Authors:  A Chabás; L Gort; M Montfort; F Castelló; M C Domínguez; D Grinberg; L Vilageliu
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

4.  High-risk screening for Gaucher disease in patients with neurological symptoms.

Authors:  Ken Momosaki; Jun Kido; Shirou Matsumoto; Shinichiro Yoshida; Atsuko Takei; Takuya Miyabayashi; Keishin Sugawara; Fumio Endo; Kimitoshi Nakamura
Journal:  J Hum Genet       Date:  2018-03-30       Impact factor: 3.172
  4 in total

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