Literature DB >> 28473367

Malar rash in classical homocystinuria.

Arushi Gahlot Saini1, Hansashree Padmanabha1, Savita Attri1, Pratibha Singhi1.   

Abstract

Entities:  

Keywords:  Dermatology; Developmental paediatrocs

Mesh：

Year:  2017        PMID： 28473367      PMCID： PMC5747660          DOI： 10.1136/bcr-2017-220296

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


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  2 in total

1.  Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.

Authors:  O Reish; D Townsend; S A Berry; M Y Tsai; R A King
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

2.  Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.

Authors:  W D Kruger; L Wang; K H Jhee; R H Singh; L J Elsas
Journal:  Hum Mutat       Date:  2003-12       Impact factor: 4.878
  2 in total

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