A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach

Journal of Inherited Metabolic Disease

Volumn 38, Issue 5, 2015, Pages 931-940

  Dorre K ^a   Olczak, M ^b   Wada, Y ^c   Sosicka, P ^b   Gruneberg M ^a   Reunert, J ^a   Kurlemann, G ^a   Fiedler, B ^a   Biskup, S ^d   Hortnagel K ^d   Rust, S ^a   Marquardt, T ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b UNIVERSITY OF WROC AW   (Poland)

^c RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^d CEGAT GMBH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTATE AMINOTRANSFERASE; DIAZEPAM; GLYCOPROTEIN; LECTIN; TRANSFERRIN; URIDINE DIPHOSPHATE GALACTOSE; GALACTOSE; GLUCOSE TRANSPORTER; UDP-GALACTOSE TRANSLOCATOR;

ALLELE; ARTICLE; BLOOD EXAMINATION; CASE REPORT; CELLULAR DISTRIBUTION; CHILD; CONGENITAL DISORDER OF GLYCOSYLATION; DEVELOPMENTAL DISORDER; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; EPILEPSY; FACIAL EXPRESSION; FEMALE; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE MICROSCOPY; INBORN ERROR OF METABOLISM; ISOELECTRIC FOCUSING; MUSCLE HYPOTONIA; NEXT GENERATION SEQUENCING; NIPPLE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRESCHOOL CHILD; PROTEIN GLYCOSYLATION; SCOLIOSIS; SEIZURE; TRANSFERRIN BLOOD LEVEL; URIDINE DIPHOSPHATE GALACTOSE TRANSPORTER DEFICIENCY; VISUAL DISORDER; X CHROMOSOME INACTIVATION; ANIMAL; CHO CELL LINE; CONGENITAL DISORDERS OF GLYCOSYLATION; CRICETULUS; DEFICIENCY; DNA MUTATIONAL ANALYSIS; DOG; GENETICS; HAMSTER; MDCK CELL LINE; PHENOTYPE;

ANIMALS; CHILD, PRESCHOOL; CHO CELLS; CONGENITAL DISORDERS OF GLYCOSYLATION; CRICETINAE; CRICETULUS; DNA MUTATIONAL ANALYSIS; DOGS; FEMALE; GALACTOSE; HUMANS; MADIN DARBY CANINE KIDNEY CELLS; MONOSACCHARIDE TRANSPORT PROTEINS; PHENOTYPE;

EID: 84940460370     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-015-9828-6     Document Type: Article

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