scholarly article | Q13442814 |
P356 | DOI | 10.1007/BF00711375 |
P698 | PubMed publication ID | 7623445 |
P50 | author | Jose Vazquez-prado | Q42797985 |
P2093 | author name string | G J Ruiz-Argüelles | |
F J Sánchez-Anzaldo | |||
E Lobato-Mendizábal | |||
E Marín-López | |||
P2860 | cites work | High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria | Q24669946 |
Porphyria and porphyrin metabolism | Q37918819 | ||
A simple method for measuring erythrocyte porphobilinogenase, and its use in the diagnosis of acute intermittent porphyria | Q39238320 | ||
Molecular genetics of disorders of haem biosynthesis | Q39624267 | ||
The porphyrias: recent advances | Q39736068 | ||
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 interpretation | Q46352365 | ||
The spectrophotometric determination of uroporphyrinogen I synthetase activity | Q67773629 | ||
The measurement of erythrocyte uroporphyrinogen 1 synthase in the diagnosis of latent and acute intermittent porphyria | Q71436428 | ||
Liquid-chromatographic analysis for urinary porphyrins | Q71508557 | ||
High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria | Q72214741 | ||
P433 | issue | 1 | |
P921 | main subject | acute intermittent porphyria | Q424247 |
P304 | page(s) | 66-71 | |
P577 | publication date | 1995-01-01 | |
P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
P1476 | title | A modified spectrophotometric assay for porphobilinogen deaminase: its application in the detection of both carriers and patients with acute intermittent porphyria | |
P478 | volume | 18 |
Q42679855 | Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations | cites work | P2860 |