Literature DB >> 24772396

Black kidney in Albinism.

Mohammad-Reza Ardalan1.   

Abstract

Implication for health policy/practice/research/medical education: Oculocutaneous albinism may be similar to two related syndromes (Hermansky-Pudlak and Chediak-Higashi) and could lead to more widespread lysosome excretory defects. These defects could lead to accumulation of some intracellular material, leading to the gross discoloration of the kidney.

Keywords:  Chediak-Higashi; Hermansky-Pudlak syndrome; Oculocutaneous Albinism

Year:  2014        PMID： 24772396      PMCID： PMC3999583          DOI： 10.12860/jnp.2014.11

Source DB:  PubMed          Journal:  J Nephropathol        ISSN： 2251-8363


  3 in total

Review 1.  Hermansky-Pudlak syndrome and related disorders of organelle formation.

Authors:  M Huizing; Y Anikster; W A Gahl
Journal:  Traffic       Date:  2000-11       Impact factor: 6.215

2.  Synthesis and secretion of kidney beta-galactosidase in mutant le/le mice.

Authors:  M H Meisler
Journal:  J Biol Chem       Date:  1978-05-10       Impact factor: 5.157

3.  Elevated urinary dolichol excretion in the Hermansky-Pudlak syndrome. Indicator of lysosomal dysfunction.

Authors:  C J Witkop; L S Wolfe; S X Cal; J G White; D Townsend; K M Keenan
Journal:  Am J Med       Date:  1987-03       Impact factor: 4.965
  3 in total

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