Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care

Molecular Syndromology

Volumn 6, Issue , 2015, Pages 141-146

  Khromykh, Alina ^a   Solomon, Benjamin D ^a,b,d   Bodian, Dale L ^a   Leon, Eyby L ^f   Iyer, Ramaswamy K ^a,e   Baker, Robin L ^b,c   Ascher, David P ^b,d   Baveja, Rajiv ^b,c   Vockley, Joseph G ^a,c   Niederhuber, John E ^a  

^a Inova Translational Medicine Institute   (United States)

^b BETTY AND GUY BEATTY CENTER FOR INTEGRATED RESEARCH   (United States)

^c FNA   (United States)

^d Departments of Pediatrics   (United States)

^e VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

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

Author keywords

Clinical workup; Cost effective care; D Bifunctional protein deficiency; Whole genome sequencing

Indexed keywords

APGAR SCORE; ARTICLE; CASE REPORT; CEPHALOPELVIC DISPROPORTION; CESAREAN SECTION; COST EFFECTIVENESS ANALYSIS; DEXTRO BIFUNCTIONAL PROTEIN DEFICIENCY; ELECTRONIC MEDICAL RECORD; FEMALE; GENE MUTATION; GENE SEQUENCE; GESTATIONAL AGE; HEALTH CARE; HOMOZYGOSITY; HOSPITALIZATION; HUMAN; INFANTILE SPASM; INTENSIVE CARE UNIT; MOLECULAR DIAGNOSIS; NEWBORN; NEWBORN INTENSIVE CARE; NEWBORN SCREENING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; TONIC CLONIC SEIZURE;

EID: 84942105904     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000433621     Document Type: Article

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