B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement

Journal of Pediatrics

Volumn 159, Issue 6, 2011, Pages

  Guillard, Maïlys ^a   Morava, Eva ^a   De Ruijter, Jorg ^a   Roscioli, Tony ^a   Penzien, Johann ^b   Van Den Heuvel, Lambert ^a   Willemsen, Michel A ^a   De Brouwer, Arjan ^a   Bodamer, Olaf A ^c   Wevers, Ron A ^a   Lefeber, Dirk J ^a  

^a RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^b KLINIKUM AUGSBURG   (Germany)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTITHROMBIN III; ASPARTATE AMINOTRANSFERASE; CREATINE KINASE; PROTEIN C; PROTEIN S;

ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; B4GALT1 GENE; BLEEDING TENDENCY; BLOOD CLOTTING DISORDER; CASE REPORT; CHILD; CONGENITAL DISORDER OF GLYCOSYLATION; CREATINE KINASE BLOOD LEVEL; DANDY WALKER SYNDROME; DIARRHEA; DISEASE SEVERITY; ENZYME DEFICIENCY; FACE DYSMORPHIA; FEMALE; GALACTOSYLTRANSFERASE DEFICIENCY; GENE; GENE EXPRESSION; GENETIC CORRELATION; GLYCOSYLATION; GROWTH CURVE; HEPATOMEGALY; HUMAN; HYDROCEPHALUS; HYPERTELORISM; MUSCLE HYPOTONIA; MYOPIA; PARTIAL THROMBOPLASTIN TIME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PSYCHOMOTOR DEVELOPMENT; SCHOOL CHILD; THROMBOCYTOPENIA; TISSUE SPECIFICITY;

EID: 80755188886     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2011.08.007     Document Type: Article

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