Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)

Pediatric Research

Volumn 62, Issue 2, 2007, Pages 225-230

  Hörster, Friederike ^a   Baumgartner, Matthias R ^c   Viardot, Caroline ^b   Suormala, Terttu ^b   Burgard, Peter ^a   Fowler, Brian ^b   Hoffmann, Georg F ^a   Garbade, Sven F ^a   Kölker, Stefan ^a   Baumgartner, E Regula ^b  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

COBAMAMIDE; METHYLMALONIC ACID; METHYLMALONYL COENZYME A MUTASE;

ADOLESCENT; ADULT; AGED; ARTICLE; CHRONIC KIDNEY FAILURE; CONTROLLED STUDY; FEMALE; FOLLOW UP; HUMAN; MAJOR CLINICAL STUDY; MALE; METHYLMALONIC ACIDURIA; NEUROLOGIC DISEASE; OUTCOME ASSESSMENT; PRIORITY JOURNAL; SCHOOL CHILD; SURVIVOR; URINARY EXCRETION;

ADOLESCENT; ADULT; AGE OF ONSET; ALKYL AND ARYL TRANSFERASES; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; COBAMIDES; DISEASE PROGRESSION; FEMALE; FOLLOW-UP STUDIES; GASTROINTESTINAL DISEASES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KAPLAN-MEIERS ESTIMATE; KIDNEY FAILURE, CHRONIC; MALE; MEMBRANE TRANSPORT PROTEINS; METHYLMALONIC ACID; METHYLMALONYL-COA MUTASE; MITOCHONDRIAL PROTEINS; MUTATION; NERVOUS SYSTEM DISEASES; PROGNOSIS; PROSPECTIVE STUDIES; TIME FACTORS; VITAMIN B 12; VITAMIN B COMPLEX;

EID: 34547617321     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/PDR.0b013e3180a0325f     Document Type: Article

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