Secondary disorders of glycosylation in inborn errors of fructose metabolism

Journal of Inherited Metabolic Disease

Volumn 32, Issue SUPPL. 1, 2009, Pages

  Quintana, E ^a,h   Sturiale, L ^b   Montero, R ^c,h   Andrade, F ^d   Fernandez, C ^a,h   Couce, M L ^e   Barone, R ^b,f   Aldamiz Echevarria, L ^d   Ribes, A ^a,h   Artuch, R ^c,h   Briones, P ^a,g,h  

^a HOSPITAL CLÍNIC   (Spain)

^b CNR   (Italy)

^c HOSPITAL SANT JOAN DE DÉU   (Spain)

^d HOSPITAL DE CRUCES   (Spain)

^e Pediatric Nutrition Research Group Health Research Institute of Santiago de Compostela   (Spain)

^f UNIVERSITY OF CATANIA   (Italy)

^g CSIC   (Spain)

^h CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

FRUCTOSE BISPHOSPHATE ALDOLASE; TRANSFERRIN;

ARTICLE; CASE REPORT; CHEMISTRY; CHILD; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1X; DIAGNOSTIC ERROR; FEMALE; GENETICS; GLYCOSYLATION; HEREDITARY FRUCTOSE INTOLERANCE; HUMAN; INFANT; ISOELECTRIC FOCUSING; MASS SPECTROMETRY; METABOLISM; MUTATION; NEWBORN; PREGNANCY; PRESCHOOL CHILD; THROMBOCYTOPENIA;

CHILD; CHILD, PRESCHOOL; CONGENITAL DISORDERS OF GLYCOSYLATION; DIAGNOSTIC ERRORS; FEMALE; FRUCTOSE INTOLERANCE; FRUCTOSE-BISPHOSPHATE ALDOLASE; GLYCOSYLATION; HUMANS; INFANT; INFANT, NEWBORN; ISOELECTRIC FOCUSING; MUTATION; PREGNANCY; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION; THROMBOCYTOPENIA; TRANSFERRIN;

EID: 84880972082     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1219-4     Document Type: Article

References (11)

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