Hereditary coproporphyria: Report of an Irish kindred and identification of a novel gene mutation

Irish Medical Journal

Volumn 101, Issue 4, 2008, Pages

  O'Gorman, C S ^a   Gill, D ^b   Darby, C ^c   Crowley, V ^c   Mahony, M J ^a  

^a UNIVERSITY HOSPITAL LIMERICK   (Ireland)

^b ST JAMES S HOSPITAL   (Ireland)

^c CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOLEVULINIC ACID; COPROPORPHYRINOGEN OXIDASE; GLUCOSE; HEME ARGINATE; PORPHOBILINOGEN;

ABDOMINAL PAIN; ADOLESCENT; AUTOSOMAL DOMINANT INHERITANCE; CALORIC INTAKE; CASE REPORT; COPROPORPHYRIA; EARLY INTERVENTION; FAMILY STUDY; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; IRELAND; LETTER; PATIENT COUNSELING; PATIENT EDUCATION; PERIPHERAL NEUROPATHY; RELATIVE; SCREENING; VISUAL HALLUCINATION; ADULT; GENETICS; MALE; MUTATION; PEDIGREE;

ADOLESCENT; ADULT; COPROPORPHYRIA, HEREDITARY; COPROPORPHYRINOGEN OXIDASE; FEMALE; GLUCOSE; HUMANS; IRELAND; MALE; MUTATION; PEDIGREE;

EID: 48249133340     PISSN: 03323102     EISSN: 03323102     Source Type: Journal    
DOI: None     Document Type: Letter

References (4)

1. McDonnell C, O'Donovan F. Hereditary coproporphyria: case report of an acute crisis. IMJ 2005; 98(5): 150-151.
2. Thadani H, Deacon A, Peters T. Regular review: Diagnosis and management of porphyria. BMJ 2000; 320: 1647-51.
3. Disler PB, Moore MR. Drug-sensitive diseases: Acute porphyries. Adverse Drug Reaction Bulletin 1989; 129: 484-7.
4. Onland-Moret NC, Peeters PHM, van Gils CH, Clavel-Chapelon F, et al. Age at menarche in relation to adult height: The EPIC Study. Am J Epidemiol 2005; 162(7): 623-32.