Literature DB >> 9265968

New perspectives in type 2 Gaucher disease.

E Sidransky1.   

Abstract

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Year:  1997        PMID： 9265968

Source DB:  PubMed          Journal:  Adv Pediatr        ISSN： 0065-3101


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  9 in total

1.  Neonatal cholestasis as initial manifestation of type 2 Gaucher disease: a continuum in the spectrum of early onset Gaucher disease.

Authors:  Abdallah F Elias; Maria Ronningen Johnson; John K Boitnott; David Valle
Journal:  JIMD Rep       Date:  2011-12-11

2.  Type 2 Gaucher disease: the collodion baby phenotype revisited.

Authors:  D L Stone; W F Carey; J Christodoulou; D Sillence; P Nelson; M Callahan; N Tayebi; E Sidransky
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2000-03       Impact factor: 5.747

Review 3.  Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

Authors:  N Gupta; I M Oppenheim; E F Kauvar; N Tayebi; E Sidransky
Journal:  Blood Cells Mol Dis       Date:  2010-09-28       Impact factor: 3.039

4.  Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.

Authors:  M E Grace; P Ashton-Prolla; G M Pastores; A Soni; R J Desnick
Journal:  J Clin Invest       Date:  1999-03       Impact factor: 14.808

5.  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

6.  Gaucher's disease.

Authors:  Vijay Bohra; Velu Nair
Journal:  Indian J Endocrinol Metab       Date:  2011-07

Review 7.  Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.

Authors:  J Edmond Wraith; Maurizio Scarpa; Michael Beck; Olaf A Bodamer; Linda De Meirleir; Nathalie Guffon; Allan Meldgaard Lund; Gunilla Malm; Ans T Van der Ploeg; Jiri Zeman
Journal:  Eur J Pediatr       Date:  2007-11-23       Impact factor: 3.183

8.  A Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations.

Authors:  Meili Wei; Aiqin Han; Liping Wei; Liji Ma
Journal:  Front Pediatr       Date:  2019-05-22       Impact factor: 3.418

Review 9.  Gaucher Disease for Hematologists

Authors:  Gül Nihal Özdemir; Eren Gündüz
Journal:  Turk J Haematol       Date:  2022-04-20       Impact factor: 2.029
  9 in total

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