| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1049002148 |
| P356 | DOI | 10.1007/S10545-010-9228-X |
| P698 | PubMed publication ID | 20978940 |
| P2093 | author name string | Irene Paradisi | |
| Sergio Arias | |||
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| Liver transplantation for acute intermittent porphyria: a viable treatment? | Q43172810 | ||
| Evidence for an ancestral founder of the common R116W mutation in the hydroxymethylbilane synthase gene in acute intermittent porphyria in The Netherlands. | Q43298235 | ||
| Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms | Q43934792 | ||
| Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene | Q44173479 | ||
| Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients. | Q44302301 | ||
| Molecular analysis of acute intermittent porphyria: mutation screening in 20 patients in Germany reveals 11 novel mutations | Q44788415 | ||
| An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity | Q45219213 | ||
| Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation | Q45307339 | ||
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| Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect | Q46376502 | ||
| HMBS mutations in Chinese patients with acute intermittent porphyria. | Q51444444 | ||
| The hepatic porphyrias: experience with 105 cases | Q67875866 | ||
| Detection of four mutations in six unrelated South African patients with acute intermittent porphyria | Q71201178 | ||
| Phenotypic and population features of MPS IH in Quibor, Venezuela | Q71643967 | ||
| A modified spectrophotometric assay for porphobilinogen deaminase: its application in the detection of both carriers and patients with acute intermittent porphyria | Q71925329 | ||
| Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene | Q72253560 | ||
| The occurrence and determination of delta-amino-levulinic acid and porphobilinogen in urine | Q73933517 | ||
| Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations | Q78147289 | ||
| Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria | Q80831939 | ||
| Porphyrias | Q81277608 | ||
| Porphyrias | Q83185413 | ||
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | acute intermittent porphyria | Q424247 |
| single-nucleotide polymorphism | Q501128 | ||
| P304 | page(s) | S455-63 | |
| P577 | publication date | 2010-10-27 | |
| P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
| P1476 | title | Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations | |
| P478 | volume | 33 Suppl 3 |
| Q35039960 | Acute intermittent porphyria associated with respiratory failure: a multidisciplinary approach |
| Q47923220 | GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies |
| Q34457673 | Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP). |
| Q41148958 | Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent |
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