Congenital disorders of glycosylation: New defects and still counting

Journal of Inherited Metabolic Disease

Volumn 37, Issue 4, 2014, Pages 609-617

  Scott, Kyle ^a   Gadomski, Therese ^a   Kozicz, Tamas ^a,b   Morava, Eva ^a  

^a TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINESTERASE INHIBITOR; CREATINE KINASE; DPAGT1 PROTEIN; DPM SYNTHASE COMPLEX; ENZYME; GALACTOSE; PGM1 PROTEIN; PHOSPHOGLUCOMUTASE; SSR4 PROTEIN; TRANSFERRIN; UNCLASSIFIED DRUG; POLYSACCHARIDE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CAPILLARY ELECTROPHORESIS; CELL INTERACTION; CONGENITAL DISORDER OF GLYCOSYLATION; DPAGT1 DEFICIENCY; GLYCOSYLATION; HUMAN; INTELLECTUAL IMPAIRMENT; MANNOSIDOSIS; MISSENSE MUTATION; PHENOTYPE; PHOSPHOGLUCOMUTASE DEFICIENCY; PHOSPHOMANNOSE ISOMERASE DEFICIENCY; SIALIC ACID TRANSPORTER DISORDER; TANDEM MASS SPECTROMETRY; CLASSIFICATION; CONGENITAL DISORDERS OF GLYCOSYLATION; DEFICIENCY; METABOLISM; NEWBORN; PROTEIN PROCESSING;

CONGENITAL DISORDERS OF GLYCOSYLATION; GLYCOSYLATION; HUMANS; INFANT, NEWBORN; PHENOTYPE; POLYSACCHARIDES; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 84904111497     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9720-9     Document Type: Article

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