Literature DB >> 9350830

Gaucher disease plus.

E Sidransky, E I Ginns.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1997        PMID： 9350830      PMCID： PMC1051104          DOI： 10.1136/jmg.34.10.876-a

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  10 in total

1.  1342C mutation in Gaucher's disease.

Authors:  E Beutler; C Kattamis; J Sipe; M Lipson
Journal:  Lancet       Date:  1995-12-16       Impact factor: 79.321

2.  Pulmonary hypertension developing after alglucerase therapy in two patients with type 1 Gaucher disease complicated by the hepatopulmonary syndrome.

Authors:  A Dawson; D J Elias; D Rubenson; S H Bartz; P R Garver; A C Kay; C M Bloor; E Beutler
Journal:  Ann Intern Med       Date:  1996-12-01       Impact factor: 25.391

3.  D409H/D409H genotype in Gaucher-like disease.

Authors:  E Uyama; M Uchino; H Ida; Y Eto; M Owada
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

4.  Molecular and phenotypic variation in patients with severe Hunter syndrome.

Authors:  K M Timms; M L Bondeson; M A Ansari-Lari; K Lagerstedt; D M Muzny; S P Dugan-Rocha; D L Nelson; U Pettersson; R A Gibbs
Journal:  Hum Mol Genet       Date:  1997-03       Impact factor: 6.150

5.  Occurrence of Parkinson's syndrome in type I Gaucher disease.

Authors:  O Neudorfer; N Giladi; D Elstein; A Abrahamov; T Turezkite; E Aghai; A Reches; B Bembi; A Zimran
Journal:  QJM       Date:  1996-09

6.  Structure and organization of the human metaxin gene (MTX) and pseudogene.

Authors:  G L Long; S Winfield; K W Adolph; E I Ginns; P Bornstein
Journal:  Genomics       Date:  1996-04-15       Impact factor: 5.736

7.  Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.

Authors:  A Abrahamov; D Elstein; V Gross-Tsur; B Farber; Y Glaser; I Hadas-Halpern; S Ronen; M Tafakjdi; M Horowitz; A Zimran
Journal:  Lancet       Date:  1995-10-14       Impact factor: 79.321

8.  Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells.

Authors:  E Uyama; K Takahashi; M Owada; R Okamura; M Naito; S Tsuji; S Kawasaki; S Araki
Journal:  Acta Neurol Scand       Date:  1992-10       Impact factor: 3.209

9.  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

Review 10.  Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene.

Authors:  E Sidransky; D M Sherer; E I Ginns
Journal:  Pediatr Res       Date:  1992-10       Impact factor: 3.756
  10 in total
  1 in total

1.  Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease.

Authors:  Gustavo H B Maegawa; Michael B Tropak; Justin D Buttner; Brigitte A Rigat; Maria Fuller; Deepangi Pandit; Liangiie Tang; Gregory J Kornhaber; Yoshitomo Hamuro; Joe T R Clarke; Don J Mahuran
Journal:  J Biol Chem       Date:  2009-07-03       Impact factor: 5.157
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.