A modified spectrophotometric assay for porphobilinogen deaminase: its application in the detection of both carriers and patients with acute intermittent porphyria

scientific article published on 01 January 1995

A modified spectrophotometric assay for porphobilinogen deaminase: its application in the detection of both carriers and patients with acute intermittent porphyria is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/BF00711375
P698PubMed publication ID7623445

P50authorJose Vazquez-pradoQ42797985
P2093author name stringG J Ruiz-Argüelles
F J Sánchez-Anzaldo
E Lobato-Mendizábal
E Marín-López
P2860cites workHigh frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyriaQ24669946
Porphyria and porphyrin metabolismQ37918819
A simple method for measuring erythrocyte porphobilinogenase, and its use in the diagnosis of acute intermittent porphyriaQ39238320
Molecular genetics of disorders of haem biosynthesisQ39624267
The porphyrias: recent advancesQ39736068
International review of drugs in acute porphyria--1980.Q40296848
Erythrocyte uroporphyrinogen I synthase activity in diagnosis of acute intermittent porphyria.Q44016870
Modified erythrocyte uroporphyrinogen I synthase assay, and its clinical interpretationQ46352365
The spectrophotometric determination of uroporphyrinogen I synthetase activityQ67773629
The measurement of erythrocyte uroporphyrinogen 1 synthase in the diagnosis of latent and acute intermittent porphyriaQ71436428
Liquid-chromatographic analysis for urinary porphyrinsQ71508557
High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyriaQ72214741
P433issue1
P921main subjectacute intermittent porphyriaQ424247
P304page(s)66-71
P577publication date1995-01-01
P1433published inJournal of Inherited Metabolic DiseaseQ6295359
P1476titleA modified spectrophotometric assay for porphobilinogen deaminase: its application in the detection of both carriers and patients with acute intermittent porphyria
P478volume18

Reverse relations

Q42679855Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutationscites workP2860