Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient

Neuroendocrinology Letters

Volumn 35, Issue 2, 2014, Pages 137-141

  Ondruskova, Nina ^a   Honzik, Tomas ^a   Vondrackova, Alzbeta ^a   Tesarova, Marketa ^a   Zeman, Jiri ^a   Hansikova, Hana ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Congenital disorders of glycosylation; Glycoconjugate; Glycogen; Intellectual disability; Phosphoglucomutase 1

Indexed keywords

APOLIPOPROTEIN C3; GLYCOCONJUGATE; PHOSPHOGLUCOMUTASE; TRANSFERRIN;

ARTICLE; BIOINFORMATICS; CASE REPORT; CENTRAL NERVOUS SYSTEM; CHILD; CLINICAL FEATURE; COMPUTER MODEL; CONGENITAL DISORDER OF GLYCOSYLATION; ECHOCARDIOGRAPHY; FIBROBLAST; GLYCOGEN STORAGE DISEASE; GLYCOSYLATION; HEPATOMEGALY; HUMAN; HUMAN TISSUE; INTELLECTUAL IMPAIRMENT; ISOELECTRIC FOCUSING; MALE; MICROCEPHALY; MISSENSE MUTATION; PATHOGENICITY; PHENOTYPE; PRESCHOOL CHILD; SHORT STATURE; SPECTROPHOTOMETRY;

CENTRAL NERVOUS SYSTEM; CHILD; GLYCOGEN STORAGE DISEASE; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MUTATION, MISSENSE; PHENOTYPE; PHOSPHOGLUCOMUTASE;

EID: 84903166717     PISSN: 0172780X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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