Acute intermittent porphyria: Studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias

Archives of Neurology

Volumn 61, Issue 11, 2004, Pages 1764-1770

  Solis, Constanza ^a,b   Martinez Bermejo, Antonio ^a   Naidich, Thomas P ^b   Kaufmann, Walter E ^c   Astrin, Kenneth H ^b   Bishop, David F ^b   Desnick, Robert J ^b,d  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b NEW YORK UNIVERSITY   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; PORPHOBILINOGEN DEAMINASE; PORPHYRIN;

ACUTE INTERMITTENT PORPHYRIA; ARTICLE; BRAIN INJURY; CASE REPORT; CEREBRAL PALSY; CHILD; CLINICAL FEATURE; ENZYME ACTIVITY; FEMALE; FOLLOW UP; HUMAN; HUMAN TISSUE; INFANT; MALE; MUTATION; NEUROLOGIC EXAMINATION; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGODENDROGLIA; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR PERFORMANCE; PSYCHOMOTOR RETARDATION; RESPIRATORY CHAIN; URINE COLOR; WHITE MATTER;

ACUTE DISEASE; BRAIN; GENOTYPE; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; INFANT; MAGNETIC RESONANCE IMAGING; MALE; OLIGODENDROGLIA; PEDIGREE; PERIODICITY; PHENOTYPE; PORPHYRIAS; PORPHYRINS;

EID: 7744243502     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.61.11.1764     Document Type: Article

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