Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: A 42-year follow-up

Molecular Genetics and Metabolism

Volumn 110, Issue 4, 2013, Pages 472-476

  Haarmann, A ^a,b   Mayr, M ^c   Kolker S ^d   Baumgartner, E R ^e   Schnierda, J ^f   Hopfer, H ^g   Devuyst, O ^b   Baumgartner, M R ^a,b  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c UNIVERSITY HOSPITAL BASEL   (Switzerland)

^d UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^f University Children's Hospital Division of Inherited Metabolic Diseases ^*  (Germany)

^g UNIVERSITY HOSPITAL BASEL   (Switzerland)

Author keywords

Chronic kidney disease; End stage renal disease; Kidney biopsy; Kidney transplantation; Methylmalonic aciduria

Indexed keywords

ALLOPURINOL; BILIRUBIN; CARNITINE; CREATININE; HYDROXOCOBALAMIN; METHYLMALONIC ACID; METHYLMALONYL COENZYME A MUTASE; MYCOPHENOLIC ACID; PREDNISONE; TACROLIMUS; URIC ACID;

ADULT; AMINO ACID SUBSTITUTION; ARTERIOLOSCLEROSIS; ARTICLE; BILIRUBIN BLOOD LEVEL; CASE REPORT; CATCH UP GROWTH; CHRONIC KIDNEY FAILURE; CREATININE BLOOD LEVEL; DISEASE COURSE; END STAGE RENAL DISEASE; EXON; FEMALE; FOLLOW UP; GENE MUTATION; GLOMERULONEPHRITIS; GLOMERULUS FILTRATION RATE; HOMOZYGOSITY; HUMAN; HYPERGLYCINEMIA; HYPERLYSINEMIA; HYPERTENSION; HYPERURICEMIA; JAUNDICE; KIDNEY BIOPSY; KIDNEY TRANSPLANTATION; METHYLMALONIC ACIDURIA; MUSCLE HYPOTONIA; PRIORITY JOURNAL; PROTEIN INTAKE; PROTEIN RESTRICTION; RENAL REPLACEMENT THERAPY; VOMITING;

URIA;

2-METHYLCITRIC ACID; 3-OH-PA; 3-OH-PROPIONIC ACID; ADENOSYLCOBALAMIN; ADOCBL; CBLA; CBLB; CBLD-VARIANT 2; CHRONIC KIDNEY DISEASE; CKD; COMPLETE DEFECT OF METHYLMALONYL-COA MUTASE ACTIVITY OMIM 251000; EGFR; END-STAGE RENAL DISEASE; ESTIMATED GFR; KIDNEY BIOPSY; KIDNEY TRANSPLANTATION; MC; MCM; METHYLMALONIC ACID; METHYLMALONIC ACIDURIA; METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA CBLD TYPE OMIM 277410; METHYLMALONIC ACIDURIA CBLA TYPE OMIM 251100; METHYLMALONIC ACIDURIA CBLB TYPE OMIM 251110; METHYLMALONYL-COA MUTASE OMIM 609058; MMA; MMA-URIA; MUT(-); MUT(0); PA; PARTIAL DEFECT OF METHYLMALONYL-COA MUTASE ACTIVITY OMIM 251000; PROPIONIC ACID; VITAMIN B(12) RESPONSIVENESS;

AMINO ACID METABOLISM, INBORN ERRORS; CHILD; FEMALE; FOLLOW-UP STUDIES; GLOMERULAR FILTRATION RATE; HUMANS; HYDROXOCOBALAMIN; KIDNEY FAILURE, CHRONIC; KIDNEY TRANSPLANTATION; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MUTATION; VITAMIN B 12;

EID: 84897084379     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.08.021     Document Type: Article

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