Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Abdel Ghaffar, Tawhida Y ^a,b   Elsobky, Ezzat S ^b,c   Elsayed, Solaf M ^a,b,c  

^a Yassin Abdelghaffar Charity Center for Liver Disease and Research   (Egypt)

^b Ain Shams University   (Egypt)

^c Medical Genetics Center   (Egypt)

Author keywords

[No Author keywords available]

Indexed keywords

LIVER ENZYME; SPIRONOLACTONE; URSODEOXYCHOLIC ACID; VITAMIN D; VITAMIN K GROUP; VITAMIN;

ARTICLE; CHILD; CHOLESTASIS; CHROMATID; CHROMOSOME; CHROMOSOME BREAKAGE; COCKAYNE SYNDROME; DEATH; DNA REPAIR; FEMALE; HUMAN; LIVER FAILURE; LIVER FUNCTION; MAJOR CLINICAL STUDY; MALE; NEUROLOGIC DISEASE; PRESCHOOL CHILD; ADOLESCENT; CASE REPORT; FATALITY; GENETICS; INFANT; KARYOTYPING; LIVER; PATHOPHYSIOLOGY;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHOLESTASIS; CHROMATIDS; CHROMOSOME BREAKAGE; COCKAYNE SYNDROME; DNA REPAIR; FATAL OUTCOME; FEMALE; HUMANS; INFANT; KARYOTYPING; LIVER; MALE; VITAMINS;

EID: 79953743186     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-13     Document Type: Article

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