Literature DB >> 7641780

Gaucher disease associated with congenital ichthyosis in the neonate.

Z Ince, A Coban, O Peker, U Ince, G Can.   

Abstract

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Year:  1995        PMID： 7641780     DOI： 10.1007/bf02072120

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  5 in total

1.  Collodion babies with Gaucher's disease--a further case.

Authors:  A H Lipson; M Rogers; A Berry
Journal:  Arch Dis Child       Date:  1991-05       Impact factor: 3.791

2.  Collodion babies with Gaucher's disease.

Authors:  K Lui; C Commens; R Choong; R Jaworski
Journal:  Arch Dis Child       Date:  1988-07       Impact factor: 3.791

3.  Gaucher's disease in the presence of normal glucocerebrosidase activity.

Authors:  D E Schofield; C R Scott; J M Lage; D F Farrell
Journal:  Hum Pathol       Date:  1992-05       Impact factor: 3.466

4.  Congenital ichthyosis with restrictive dermopathy and Gaucher disease: a new syndrome with associated prenatal diagnostic and pathology findings.

Authors:  D M Sherer; L A Metlay; R A Sinkin; C Mongeon; R E Lee; J R Woods
Journal:  Obstet Gynecol       Date:  1993-05       Impact factor: 7.661

Review 5.  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
  5 in total
  2 in total

1.  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

2.  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
  2 in total

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