Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors

Journal of Inherited Metabolic Disease

Volumn 27, Issue 1, 2004, Pages 19-27

  Hessels, J ^a,c   Voortman, G ^a   van Der Wagen, A ^a   van Der Elzen, C ^b   Scheffer, H ^b   Zuijderhoudt, F M J ^c  

^a TWENTEBORG HOSPITAL   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c DEVENTER HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOLEVULINIC ACID; COPROPORPHYRIN; PORPHOBILINOGEN; PORPHOBILINOGEN DEAMINASE; PORPHYRIN DERIVATIVE; UROPORPHYRIN;

ACUTE INTERMITTENT PORPHYRIA; ANEMIA; ARTICLE; CASE REPORT; DISEASE SEVERITY; ENZYME ACTIVITY; ERYTHROCYTE; EXON; FATHER; GENE MUTATION; HEPATOSPLENOMEGALY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; METABOLITE; MOTHER; MUTATIONAL ANALYSIS; PRECURSOR; SCHOOL CHILD; SYMPTOMATOLOGY; TOOTH COLOR; URINARY EXCRETION; URINE COLOR; URINE LEVEL;

CHILD; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMATOGRAPHY, THIN LAYER; ERYTHROCYTES; FECES; GENES, DOMINANT; HOMOZYGOTE; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MALE; MUTATION; PORPHYRIA, ACUTE INTERMITTENT; PORPHYRINS; PROTEIN PRECURSORS; SEVERITY OF ILLNESS INDEX;

EID: 1842486100     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000016613.75677.05     Document Type: Article

References (14)

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