Literature DB >> 11170073

12-year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease).

J Ivanovich1, S Mallory, T Storer, D Ciske, A Hing.   

Abstract

Neuroectodermal melanolysosomal disease, also known as Elejalde syndrome, is a rare syndrome characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. It is similar to the Chediak-Higashi and Griscelli syndromes, although these syndromes are associated with severe immunologic dysfunction. We report on a 12-year-old male with Elejalde syndrome and compare the Elejalde, Chediak-Higashi, and Griscelli syndromes. Copyright 2001 Wiley-Liss, Inc.

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Year:  2001        PMID: 11170073     DOI: 10.1002/1096-8628(20010201)98:4<313::aid-ajmg1098>3.0.co;2-p

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

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Authors:  Gaël Ménasché; Alain Fischer; Geneviève de Saint Basile
Journal:  Am J Hum Genet       Date:  2002-11       Impact factor: 11.025

2.  Current Strategies in Diagnosis of Inherited Storage Pool Defects.

Authors:  Kirstin Sandrock; Barbara Zieger
Journal:  Transfus Med Hemother       Date:  2010-09-15       Impact factor: 3.747

3.  Neurodegenerative disorders with hair abnormalities: an emergency room consultation for dermatologists.

Authors:  Arun C Inamadar; Aparna Palit
Journal:  Int J Trichology       Date:  2009-01
  3 in total

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