Causes of and diagnostic approach to methylmalonic acidurias

Journal of Inherited Metabolic Disease

Volumn 31, Issue 3, 2008, Pages 350-360

  Fowler, Brian ^a   Leonard, J V ^b   Baumgartner, M R ^c  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

COBALAMIN; COBAMAMIDE; CYANOCOBALAMIN; HYDROXOCOBALAMIN; METHYLMALONIC ACID; PROPIONIC ACID; SUCCINYL COENZYME A SYNTHETASE;

DIAGNOSTIC APPROACH ROUTE; DIFFERENTIAL DIAGNOSIS; DRUG MEGADOSE; DRUG RESPONSE; ENZYME ANALYSIS; ENZYME METABOLISM; ENZYME SYNTHESIS; GENE MUTATION; GENETIC ANALYSIS; GENETIC COMPLEMENTATION; HUMAN; METHYLMALONIC ACIDEMIA; MUTATIONAL ANALYSIS; REFERENCE VALUE; REVIEW; SKIN FIBROBLAST;

AMINO ACID METABOLISM, INBORN ERRORS; COBAMIDES; GENETIC COMPLEMENTATION TEST; HUMANS; METHYLMALONIC ACID; MUTATION; RACEMASES AND EPIMERASES; SUCCINATE-COA LIGASES; VITAMIN B 12;

EID: 45849132005     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0839-4     Document Type: Review

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