Literature DB >> 10985003

Chediak-Higashi syndrome.

P Kumar1, K S Rao, P Shashikala, H R Chandrashekar, C R Banapurmath.   

Abstract

A case of Chediak-Higashi syndrome is reported in a four-year-old boy who presented with recurrent chest infection, partial albinism, hyperpigmentation of the extremities and presence of giant granules in leucocytes and melanocytes in the skin. Parental consanguinity was present. Though uncommon, hyperpigmentation of sun exposed areas may be the initial symptom in Chediak-Higashi syndrome.

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Year:  2000        PMID： 10985003     DOI： 10.1007/BF02758492

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  10 in total

1.  Chediak-Higashi syndrome.

Authors:  C R Rao; L Appaji; N Lalitha; M K Bhargava
Journal:  Indian J Pediatr       Date:  1989 Nov-Dec       Impact factor: 1.967

2.  Chediak-Higashi syndrome in a black infant. A light and electron microscopic study with special emphasis on erythrophagocytosis.

Authors:  R Valenzuela; M Aikawa; S O'Regan; S Makker
Journal:  Am J Clin Pathol       Date:  1976-04       Impact factor: 2.493

3.  A case of Chediak Higashi syndrome.

Authors:  C Prakash; N Suvarna; P C Rajalakshmi; K P Aravindan; K G Chandrasekharan
Journal:  J Assoc Physicians India       Date:  1990-07

4.  Chediak-Higashi syndrome--a case report with ultrastructural and cytogenetic study.

Authors:  T S Yasha; S Vani; A Vasanth; M Augustus; Y Ramamohan; S Das; S K Shankar; R C Yasha
Journal:  Indian J Pathol Microbiol       Date:  1997-01       Impact factor: 0.740

5.  Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.

Authors:  M A Karim; D L Nagle; H H Kandil; J Bürger; K J Moore; R A Spritz
Journal:  Hum Mol Genet       Date:  1997-07       Impact factor: 6.150

6.  Chediak-Higashi syndrome.

Authors:  H N Usha; P D Prabhu; M Sridevi; K Baindur; C M Balakrishnan
Journal:  Indian Pediatr       Date:  1994-09       Impact factor: 1.411

7.  Chediak Higashi syndrome.

Authors:  P Seth; M Bhargava; V Kalra
Journal:  Indian Pediatr       Date:  1982-11       Impact factor: 1.411

8.  The accelerated phase of Chediak-Higashi syndrome. An expression of the virus-associated hemophagocytic syndrome?

Authors:  C M Rubin; B A Burke; R W McKenna; K L McClain; J G White; M E Nesbit; A H Filipovich
Journal:  Cancer       Date:  1985-08-01       Impact factor: 6.860

Review 9.  Chédiak-Higashi syndrome: report of a case and review of the Japanese literature.

Authors:  K Fukai; M Ishii; A Kadoya; M Chanoki; T Hamada
Journal:  J Dermatol       Date:  1993-04       Impact factor: 4.005

10.  Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak-Higashi syndrome and variant).

Authors:  A Durandy; J Breton-Gorius; D Guy-Grand; C Dumez; C Griscelli
Journal:  Prenat Diagn       Date:  1993-01       Impact factor: 3.050
  10 in total
  3 in total

1.  Chédiak-higashi syndrome: a case report.

Authors:  Shashikant C U Patne; Sandip Kumar; Narendra Kumar Bagri; Ashok Kumar; Jyoti Shukla
Journal:  Indian J Hematol Blood Transfus       Date:  2012-02-01       Impact factor: 0.900

2.  A rare cause of recurrent oral lesions: chediak-higashi syndrome.

Authors:  Müsemma Karabel; Selvi Kelekçi; Velat Sen; Duran Karabel; Ciğdem Aliosmanoğlu; Murat Söker
Journal:  Turk J Haematol       Date:  2014-09-05       Impact factor: 1.831

3.  The neuropsychological phenotype of Chediak-Higashi disease.

Authors:  Talia N Shirazi; Joseph Snow; Lillian Ham; Greta B Raglan; Edythe A Wiggs; Angela C Summers; Camilo Toro; Wendy J Introne
Journal:  Orphanet J Rare Dis       Date:  2019-05-06       Impact factor: 4.123
  3 in total

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