Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome

Journal of Inherited Metabolic Disease

Volumn 31, Issue SUPPL. 2, 2008, Pages

  Sovik O ^a,b   Njolstad P R ^a,b   Jellum, E ^c   Molven, A ^a,b  

^a UNIVERSITY OF BERGEN   (Norway)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF OSLO   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

ADIPIC ACID; ADIPIC ACID DERIVATIVE; BIOLOGICAL MARKER; DICARBOXYLIC ACID; EIF2AK3 PROTEIN, HUMAN; HYDROXYACID; PROTEIN KINASE R;

ARTICLE; CASE REPORT; CHONDRODYSPLASIA; CONGENITAL MALFORMATION; DIABETES MELLITUS; DISEASE COURSE; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; ENZYMOLOGY; EPIPHYSIS; FATALITY; FEMALE; GENETICS; HUMAN; INFANT; INSULIN DEPENDENT DIABETES MELLITUS; KIDNEY FAILURE; LIVER FAILURE; MASS FRAGMENTOGRAPHY; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; URINE;

ADIPIC ACIDS; BIOLOGICAL MARKERS; CHILD, PRESCHOOL; DIABETES MELLITUS; DIABETES MELLITUS, TYPE 1; DICARBOXYLIC ACIDS; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EIF-2 KINASE; EPIPHYSES; FATAL OUTCOME; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HEPATIC INSUFFICIENCY; HUMANS; HYDROXY ACIDS; INFANT; LIPID METABOLISM, INBORN ERRORS; MUTATION; OSTEOCHONDRODYSPLASIAS; RENAL INSUFFICIENCY;

EID: 84859898921     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0866-1     Document Type: Article

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