Aberrant dolichol chain lengths as biomarkers for retinitis pigmentosa caused by impaired dolichol biosynthesis

Journal of Lipid Research

Volumn 54, Issue 12, 2013, Pages 3516-3522

  Wen, Rong ^a   Lam, Byron L ^a   Guan, Ziqiang ^b  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b DUKE UNIVERSITY   (United States)

Author keywords

Autosomal recessive; Dehydrodolichol diphosphate synthase; Dolichol 18:dolichol 19 ratio; Human blood; Human urine; Mass spectrometry

Indexed keywords

DOLICHOL; DOLICHOL 18; DOLICHOL 19; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BIOSYNTHESIS; BLOOD LEVEL; CHILD; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DEHYDRODOLICHOL DIPHOSPHATE SYNTHASE GENE; DIAGNOSTIC TEST ACCURACY STUDY; DOLICHOL BIOSYNTHESIS; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; LIQUID CHROMATOGRAPHY; MAJOR CLINICAL STUDY; MALE; MASS SPECTROMETRY; PRIORITY JOURNAL; RECEIVER OPERATING CHARACTERISTIC; RELIABILITY; RETINITIS PIGMENTOSA; SCHOOL CHILD; URINE LEVEL;

AUTOSOMAL RECESSIVE; DEHYDRODOLICHOL DIPHOSPHATE SYNTHASE; DOLICHOL-18:DOLICHOL-19 RATIO; HUMAN BLOOD; HUMAN URINE; MASS SPECTROMETRY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALKYL AND ARYL TRANSFERASES; BIOLOGICAL MARKERS; CHILD; DOLICHOL; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; RETINITIS PIGMENTOSA; YOUNG ADULT;

EID: 84887961482     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.M043232     Document Type: Article

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