Targeted leukodystrophy diagnosis based on charges and yields for testing

American Journal of Medical Genetics, Part A

Volumn 167, Issue 11, 2015, Pages 2541-2543

  Richards, Jackson ^a   Korgenski, E Kent ^b   Taft, Ryan J ^c   Vanderver, Adeline ^d   Bonkowsky, Joshua L ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b INTERMOUNTAIN HEALTHCARE   (United States)

^c ILLUMINA INC   (United States)

^d CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

Charges; Diagnostic odyssey; Leukodystrophy; Testing

Indexed keywords

FATTY ACID DERIVATIVE; LYSOSOME ENZYME; VERY LONG CHAIN FATTY ACID;

ARTICLE; BIOCHEMICAL ANALYSIS; CHILD; COHORT ANALYSIS; DIAGNOSTIC ERROR; DIAGNOSTIC TEST; ENZYME ANALYSIS; FATTY ACID BLOOD LEVEL; FEMALE; GENETIC DISORDER; HEALTH CARE COST; HOSPITAL PATIENT; HUMAN; LABORATORY TEST; LEUKODYSTROPHY; MAJOR CLINICAL STUDY; MALE; NEXT GENERATION SEQUENCING; OUTPATIENT; POPULATION RESEARCH; PRIORITY JOURNAL; RETROSPECTIVE STUDY; VERY LONG CHAIN FATTY ACID BLOOD LEVEL; DEMOGRAPHY; ECONOMICS; LEUKODYSTROPHY, METACHROMATIC;

COHORT STUDIES; DEMOGRAPHY; DIAGNOSTIC TESTS, ROUTINE; FEMALE; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MALE;

EID: 84947022349     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37215     Document Type: Article

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