92 related articles for article (PubMed ID: 8448048)
1. [Intermittent acute porphyria in the region of Murcia].
Fernández-Barreiro A; Carmena Rodríguez R; Martínez Hernández P
Neurologia; 1993 Mar; 8(3):99-104. PubMed ID: 8448048
[TBL] [Abstract][Full Text] [Related]
2. Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria.
Guillén-Navarro E; Carbonell P; Glover G; Sánchez-Solís M; Fernández-Barreiro A
Ann Hum Genet; 2004 Sep; 68(Pt 5):509-14. PubMed ID: 15469427
[TBL] [Abstract][Full Text] [Related]
3. Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
Ulbrichova D; Hrdinka M; Saudek V; Martasek P
FEBS J; 2009 Apr; 276(7):2106-15. PubMed ID: 19292878
[TBL] [Abstract][Full Text] [Related]
4. [Hyperprolactinemia associated with acute intermittent porphyria].
Hallal H; Albaladejo Méndez J; Macańas G; García García JF; Pérez Gracia A; Gil Sánchez FJ
An Med Interna; 1993 Dec; 10(12):601-3. PubMed ID: 8049327
[TBL] [Abstract][Full Text] [Related]
5. Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
De Siervi A; Rossetti MV; Parera VE; Astrin KH; Aizencang GI; Glass IA; Batlle AM; Desnick RJ
Am J Med Genet; 1999 Oct; 86(4):366-75. PubMed ID: 10494093
[TBL] [Abstract][Full Text] [Related]
6. Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria.
Schneider-Yin X; Szlendak U; Lipniacka AI; Minder EI; Gregor A
Clin Genet; 2006 Mar; 69(3):284-6. PubMed ID: 16542395
[No Abstract] [Full Text] [Related]
7. Acute intermittent porphyria presenting with a subarachnoid haemorrhage.
van Heyningen C; Simms DM
Ann Clin Biochem; 2008 Nov; 45(Pt 6):610-1. PubMed ID: 18782811
[TBL] [Abstract][Full Text] [Related]
8. Acute intermittent porphyria: the in vitro expression of mutant hydroxymethylbilane synthase.
Ong PM; Lanyon WG; Graham G; Hift RJ; Halkett J; Moore MR; Connor JM
Mol Cell Probes; 1997 Aug; 11(4):293-6. PubMed ID: 9281416
[TBL] [Abstract][Full Text] [Related]
9. Acute intermittent porphyria and mental illness--a family study.
Patience DA; Blackwood DH; McColl KE; Moore MR
Acta Psychiatr Scand; 1994 Apr; 89(4):262-7. PubMed ID: 8023693
[TBL] [Abstract][Full Text] [Related]
10. [The current state of acute intermittent porphyria in the region of Murcia].
Fernández-Barreiro A; Guillén-Navarro E; Tortosa-Conesa D; Meca-Lallana JE
Rev Neurol; 2004 May 1-15; 38(9):895-6. PubMed ID: 15152361
[No Abstract] [Full Text] [Related]
11. A novel 19-bp deletion of exon 15 in the HMBS gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack.
Yrjönen A; Pischik E; Mehtälä S; Kauppinen R
Clin Genet; 2008 Oct; 74(4):396-8. PubMed ID: 18647325
[No Abstract] [Full Text] [Related]
12. Spectrum of emergency department presentation in patients of acute intermittent porphyria: experience from a North Indian tertiary care center.
Kumar S; Sharma N; Modi M; Sharma A; Mahi S; Varma S
Neurol India; 2010; 58(1):95-8. PubMed ID: 20228472
[TBL] [Abstract][Full Text] [Related]
13. Haem precursors and porphobilinogen deaminase in erythrocytes and lymphocytes of patients with acute intermittent porphyria.
Gross U; Jacob K; Frank M; Doss MO
Cell Mol Biol (Noisy-le-grand); 1997 Feb; 43(1):29-35. PubMed ID: 9074786
[TBL] [Abstract][Full Text] [Related]
14. Acute intermittent porphyria: laboratory diagnosis by molecular methods.
Schreiber WE
Clin Lab Med; 1995 Dec; 15(4):943-56. PubMed ID: 8838232
[TBL] [Abstract][Full Text] [Related]
15. Prevalence of acute intermittent porphyria in a Mexican psychiatric population.
Jara-Prado A; Yescas P; Sánchez FJ; Ríos C; Garnica R; Alonso E
Arch Med Res; 2000; 31(4):404-8. PubMed ID: 11068084
[TBL] [Abstract][Full Text] [Related]
16. Awareness is the name of the game: clinical and biochemical evaluation of a case of a girl diagnosed with acute intermittent porphyria associated with autism.
Luder AS; Mamet R; Farbstein I; Schoenfeld N
Cell Mol Biol (Noisy-le-grand); 2009 Feb; 55(1):19-22. PubMed ID: 19267997
[TBL] [Abstract][Full Text] [Related]
17. New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.
Gross U; Puy H; Doss M; Robreau AM; Nordmann Y; Doss MO; Deybach JC
Mol Cell Probes; 1999 Dec; 13(6):443-7. PubMed ID: 10657149
[TBL] [Abstract][Full Text] [Related]
18. Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria.
Maeda N; Horie Y; Adachi K; Nanba E; Kawasaki H; Daimon M; Kudo Y; Kondo M
J Hum Genet; 2000; 45(4):263-8. PubMed ID: 10944860
[TBL] [Abstract][Full Text] [Related]
19. A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria.
Yu S; Poulos V; Stewart P
J Hum Genet; 2000; 45(6):367-9. PubMed ID: 11185747
[TBL] [Abstract][Full Text] [Related]
20. Gene symbol: HMBS. Disease: Acute intermittent porphyria.
Solis CS; Lopez-Echaniz I; Sefarty-Graneda D; Astrin KH; Desnick RJ
Hum Genet; 2004 Mar; 114(4):402. PubMed ID: 15046057
[No Abstract] [Full Text] [Related]
[Next] [New Search]
