Literature DB >> 3415310

Collodion babies with Gaucher's disease.

K Lui1, C Commens, R Choong, R Jaworski.   

Abstract

Two neonates with acute infantile cerebral Gaucher's disease had prominent collodion skin. Ichthyosis has been described in some cases of metabolic lipid disorders, however, this is the first report of the association of lamellar desquamation of the newborn (collodion baby) with Gaucher's disease.

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Mesh:

Year:  1988        PMID: 3415310      PMCID: PMC1779077          DOI: 10.1136/adc.63.7.854

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


  6 in total

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Authors:  I Chanarin; A Patel; G Slavin; E J Wills; T M Andrews; G Stewart
Journal:  Br Med J       Date:  1975-03-08

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Authors:  A L Beaudet
Journal:  N Engl J Med       Date:  1987-03-05       Impact factor: 91.245

Review 3.  Epidermal lipids, membranes, and keratinization.

Authors:  P M Elias
Journal:  Int J Dermatol       Date:  1981 Jan-Feb       Impact factor: 2.736

4.  X-linked ichthyosis due to steroid-sulphatase deficiency.

Authors:  D Webster; J T France; L J Shapiro; R Weiss
Journal:  Lancet       Date:  1978-01-14       Impact factor: 79.321

5.  Cutaneous manifestations of Gaucher disease.

Authors:  J Goldblatt; P Beighton
Journal:  Br J Dermatol       Date:  1984-09       Impact factor: 9.302

6.  Epidermal metabolism in heredopathia atactica polyneuritiformis (Refsum's disease).

Authors:  P J Dykes; R Marks; M G Davies; D J Reynolds
Journal:  J Invest Dermatol       Date:  1978-03       Impact factor: 8.551

  6 in total
  16 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

Review 2.  Lysosomal storage disorders in the newborn.

Authors:  Orna Staretz-Chacham; Tess C Lang; Mary E LaMarca; Donna Krasnewich; Ellen Sidransky
Journal:  Pediatrics       Date:  2009-04       Impact factor: 7.124

3.  Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.

Authors:  Fatma Derya Bulut; Deniz Kör; Berna Şeker-Yılmaz; Özlem Hergüner; Serdar Ceylaner; Ferda Özkınay; Sebile Kılavuz; Neslihan Önenli-Mungan
Journal:  Metab Brain Dis       Date:  2018-04-14       Impact factor: 3.584

4.  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

5.  A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.

Authors:  Ghunwa Nakouzi; Khalil Kreidieh; Soha Yazbek
Journal:  J Community Genet       Date:  2014-09-27

Review 6.  The clinical management of Type 2 Gaucher disease.

Authors:  Karin Weiss; Ashley Gonzalez; Grisel Lopez; Leah Pedoeim; Catherine Groden; Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2014-11-14       Impact factor: 4.797

7.  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

8.  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 9.  Pathology and current treatment of neurodegenerative sphingolipidoses.

Authors:  Matthias Eckhardt
Journal:  Neuromolecular Med       Date:  2010-08-22       Impact factor: 3.843

10.  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

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