Literature DB >> 2039265

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

A H Lipson, M Rogers, A Berry.   

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Year:  1991        PMID： 2039265      PMCID： PMC1792932          DOI： 10.1136/adc.66.5.667-a

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  1 in total

1.  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
  1 in total
  8 in total

1.  Gaucher disease associated with congenital ichthyosis in the neonate.

Authors:  Z Ince; A Coban; O Peker; U Ince; G Can
Journal:  Eur J Pediatr       Date:  1995-05       Impact factor: 3.183

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

3.  Premature Identical Twin Neonates With Sleep Apnea.

Authors:  Anirudh Ramesh; Johanna Diaz; Lawrence Nogee; Jessica Duis; Dae Song Jang; Cathleen Lawson; Gustavo Maegawa
Journal:  Clin Pediatr (Phila)       Date:  2017-03-20       Impact factor: 1.168

4.  Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease.

Authors:  W M Holleran; E I Ginns; G K Menon; J U Grundmann; M Fartasch; C E McKinney; P M Elias; E Sidransky
Journal:  J Clin Invest       Date:  1994-04       Impact factor: 14.808

Review 5.  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

6.  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

7.  Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data.

Authors:  M Elleder
Journal:  J Inherit Metab Dis       Date:  2006-11-02       Impact factor: 4.982

8.  Glucosylceramides stimulate murine epidermal hyperproliferation.

Authors:  N L Marsh; P M Elias; W M Holleran
Journal:  J Clin Invest       Date:  1995-06       Impact factor: 14.808
  8 in total

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