Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency

Pediatrics

Volumn 132, Issue 2, 2013, Pages

  Komhoff, Martin ^a,d   Roofthooft, Marcus T ^b   Westra, Dineke ^c   Teertstra, Thea K ^d   Losito, Attilio ^e   Van De Kar, Nicole C A J ^c   Berger, Rolf M F ^b  

^a Department of Paediatric Nephrology ^*  (Netherlands)

^b Centre for Congenital Heart Diseases Paediatric Cardiology   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF GRONINGEN   (Netherlands)

^e SANTA MARIA DELLA MISERICORDIA HOSPITAL   (Italy)

Author keywords

Atypical hemolytic uremic syndrome; Cobalamin C deficiency; Pulmonary arterial hypertension; Renal thrombotic microangiopathy

Indexed keywords

COMPLEMENT FACTOR H; HOMOCYSTEINE; HYDROXOCOBALAMIN; METHYLMALONIC ACID;

ADOLESCENT; ARTICLE; AUTOPSY; CHILD; CLINICAL ARTICLE; COMORBIDITY; CYANOCOBALAMIN DEFICIENCY; DEATH; FRAMESHIFT MUTATION; GENETIC ANALYSIS; HEART RIGHT VENTRICLE FAILURE; HEMOLYTIC UREMIC SYNDROME; HETEROZYGOTE; HUMAN; HYPERTENSIVE CRISIS; INTRAVASCULAR HEMOLYSIS; KIDNEY BIOPSY; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MMACHC GENE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RENAL THROMBOTIC MICROANGIOPATHY; THROMBOTIC THROMBOCYTOPENIC PURPURA;

ATYPICAL HEMOLYTIC UREMIC SYNDROME; COBALAMIN C DEFICIENCY; PULMONARY ARTERIAL HYPERTENSION; RENAL THROMBOTIC MICROANGIOPATHY;

ADOLESCENT; CARRIER PROTEINS; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EARLY DIAGNOSIS; FATAL OUTCOME; FEMALE; FOLLOW-UP STUDIES; HEMOLYTIC-UREMIC SYNDROME; HUMANS; HYDROXOCOBALAMIN; HYPERTENSION, PULMONARY; INFANT; KIDNEY; MALE; PROTO-ONCOGENE PROTEINS C-CBL; THROMBOTIC MICROANGIOPATHIES; VITAMIN B 12 DEFICIENCY;

EID: 84882245309     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2012-2581     Document Type: Article

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