ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing

American Journal of Medical Genetics, Part A

Volumn 173, Issue 10, 2017, Pages 2772-2775

  Gadomski, Therese E ^a   Bolton, Melody ^a   Alfadhel, Majid ^b   Dvorak, Chris ^a   Ogunsakin, Olalekan A ^a   Nelson, Stephen L ^a   Morava, Eva ^a  

^a TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

Author keywords

galactose; glycosylation; ICAM 1; normal TIEF; seizures

Indexed keywords

GALACTOSE; INTERCELLULAR ADHESION MOLECULE 1; LEVETIRACETAM; TRANSFERRIN; ALG13 PROTEIN, HUMAN; N ACETYLGLUCOSAMINYLTRANSFERASE;

ALG13 GENE; AMINO ACID SUBSTITUTION; ARTICLE; BRACHYCEPHALY; CASE REPORT; CEREBELLUM DISEASE; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; FIBROBLAST; GENE; GENERALIZED EPILEPSY; HEMIZYGOSITY; HUMAN; HUMAN CELL; ISOELECTRIC FOCUSING; MALE; MASS SPECTROMETRY; MISSENSE MUTATION; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEIZURE; TEMPORAL LOBE EPILEPSY; TONIC CLONIC SEIZURE; TRANSFERRIN BLOOD LEVEL; WHITE MATTER; COGNITION; GENETICS; GLYCOSYLATION; METABOLISM; MUTATION; PATHOLOGY; PHYSIOLOGY; PRESCHOOL CHILD;

CHILD, PRESCHOOL; COGNITION; CONGENITAL DISORDERS OF GLYCOSYLATION; GLYCOSYLATION; HUMANS; ISOELECTRIC FOCUSING; MALE; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; SEIZURES; TRANSFERRIN;

EID: 85028382181     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38377     Document Type: Article

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