Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation

American Journal of Human Genetics

Volumn 103, Issue 6, 2018, Pages 1030-1037

  Ng, Bobby G ^a   Rosenfeld, Jill A ^b   Emrick, Lisa ^b   Jain, Mahim ^c   Burrage, Lindsay C ^b   Lee, Brendan ^b   Craigen, William J ^b   Bearden, David R ^d   Graham, Brett H ^b,e   Freeze, Hudson H ^a  

^a BURNHAM INSTITUTE   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^e INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

congenital disorder of glycosylation; encephalopathy; fucosylation; glycan, fucose; intellectual disability; salvage

Indexed keywords

GENOMIC DNA; METHYLMALONIC ACID; PREDNISONE; FUCOKINASE; FUCOSYLTRANSFERASE; GUANOSINE DIPHOSPHATE FUCOSE; GUANOSINE DIPHOSPHATE MANNOSE; PHOSPHOTRANSFERASE; UBIQUITIN;

ALLELE; ARTICLE; BLINDNESS; BRAIN ATROPHY; BRAIN DISEASE; BRAIN VASOSPASM; CASE REPORT; CHILD; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; CRISPR-CAS9 SYSTEM; CYANOCOBALAMIN DEFICIENCY; DEMYELINATION; DEVELOPMENTAL DELAY; DIARRHEA; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; ENCEPHALOMALACIA; FEMALE; FUK GENE; GENE; GENE FUNCTION; GENE LOSS; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMMUNOBLOTTING; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; INTRACTABLE EPILEPSY; MALABSORPTION; MALE; MUSCLE HYPOTONIA; NECROTIZING ENTEROCOLITIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA MACULOPATHY; SCHOOL CHILD; SEIZURE; STRABISMUS; VISUAL IMPAIRMENT; WHOLE EXOME SEQUENCING; AMINO ACID SEQUENCE; CONGENITAL DISORDER; DEVELOPMENTAL DISORDER; FIBROBLAST; GENETIC VARIATION; GENETICS; GLYCOSYLATION; PATHOLOGY; SEQUENCE ALIGNMENT; SKIN;

AMINO ACID SEQUENCE; BRAIN DISEASES; CHILD; CONGENITAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FEMALE; FIBROBLASTS; FUCOSYLTRANSFERASES; GENETIC VARIATION; GLYCOSYLATION; GUANOSINE DIPHOSPHATE FUCOSE; GUANOSINE DIPHOSPHATE MANNOSE; HUMANS; MALE; MUSCLE HYPOTONIA; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); SEIZURES; SEQUENCE ALIGNMENT; SKIN; UBIQUITIN;

EID: 85058596365     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2018.10.021     Document Type: Article

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