PubMed

Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittent.

Di Pierro E, Brancaleoni V, Stanzial F, Benedicenti F, Castellan C, Cappellini MD.

Hum Genet. 2009 Aug;126(2):339. No abstract available. PMID: 19694018 [PubMed - indexed for MEDLINE]Related articles

Adult-onset erythropoietic porphyria in the setting of MDS.

Cernik C, Haller N, Mostow EN.

Arch Dermatol. 2009 Aug;145(8):948-9. No abstract available. PMID: 19687436 [PubMed - indexed for MEDLINE]Related articles

Relation of porphyria to atrial fibrillation.

Dhoble A, Patel MB, Abdelmoneim SS, Puttarajappa C, Abela GS, Bhatt DL, Thakur RK.

Am J Cardiol. 2009 Aug 1;104(3):373-6. Epub 2009 Jun 6.PMID: 19616670 [PubMed - indexed for MEDLINE]Related articles

Role of two nutritional hepatic markers (insulin-like growth factor 1 and transthyretin) in the clinical assessment and follow-up of acute intermittent porphyria patients.

Delaby C, To-Figueras J, Deybach JC, Casamitjana R, Puy H, Herrero C.

J Intern Med. 2009 Sep;266(3):277-85. Epub 2009 Apr 23.PMID: 19570056 [PubMed - indexed for MEDLINE]Related articles

Remarks on the acute intermittent porphyria.

Pfäfflin A.

Ann Clin Biochem. 2009 Jul;46(Pt 4):347-8; author reply 348. Epub 2009 Jun 29. No abstract available. PMID: 19564164 [PubMed - indexed for MEDLINE]Related articles

The acute porphyrias: a diagnostic and therapeutic challenge in internal and emergency medicine.

Ventura P, Cappellini MD, Rocchi E.

Intern Emerg Med. 2009 Aug;4(4):297-308. Epub 2009 May 29.PMID: 19479318 [PubMed - indexed for MEDLINE]Related articles

Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.

Whatley SD, Mason NG, Woolf JR, Newcombe RG, Elder GH, Badminton MN.

Clin Chem. 2009 Jul;55(7):1406-14. Epub 2009 May 21.PMID: 19460837 [PubMed - indexed for MEDLINE]Related articles

Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.

Badenas C, To-Figueras J, Phillips JD, Warby CA, Muñoz C, Herrero C.

Clin Genet. 2009 Apr;75(4):346-53.PMID: 19419417 [PubMed - indexed for MEDLINE]Related articles

Clinical aspects of acute intermittent porphyria in northern Sweden: a population-based study.

Bylesjö I, Wikberg A, Andersson C.

Scand J Clin Lab Invest. 2009;69(5):612-8.PMID: 19401933 [PubMed - indexed for MEDLINE]Related articles

Enzyme antioxidant defences and oxidative damage in red blood cells of variegate porphyria patients.

Ferrer MD, Tauler P, Sureda A, Romaguera D, Llompart I, Palacin C, Orfila J, Tur JA, Pons A.

Redox Rep. 2009;14(2):69-74.PMID: 19389274 [PubMed - indexed for MEDLINE]Related articles

Porphyria in Switzerland, 15 years experience.

Schneider-Yin X, Harms J, Minder EI.

Swiss Med Wkly. 2009 Apr 4;139(13-14):198-206.PMID: 19350426 [PubMed - indexed for MEDLINE]Related articlesFree article

Plasma porphobilinogen as a sensitive biomarker to monitor the clinical and therapeutic course of acute intermittent porphyria attacks.

Sardh E, Harper P, Andersson DE, Floderus Y.

Eur J Intern Med. 2009 Mar;20(2):201-7. Epub 2008 Aug 8.PMID: 19327613 [PubMed - indexed for MEDLINE]Related articles

Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.

Di Pierro E, Besana V, Brancaleoni V, Fasulo MR, Cesaretti C, Cappellini MD.

Hum Genet. 2009 Apr;125(3):347. No abstract available. PMID: 19320027 [PubMed - indexed for MEDLINE]Related articles

Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.

Besana V, Di Pierro E, Brancaleoni V, Sabrina A, Fiocchi M, Cappellini MD.

Hum Genet. 2009 Apr;125(3):344. No abstract available. PMID: 19320020 [PubMed - indexed for MEDLINE]Related articles

Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.

Ausenda S, Moriondo V, Marchini S, Besana V, Di Pierro E, Brancaleoni V, Ventura P, Rocchi E, Cappellini MD.

Hum Genet. 2009 Apr;125(3):344. No abstract available. PMID: 19320019 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 19292878 [PubMed - indexed for MEDLINE]Related articles

Neurological manifestations of acute intermittent porphyria.

Pischik E, Kauppinen R.

Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):72-83. Review.PMID: 19268005 [PubMed - indexed for MEDLINE]Related articles

Porphyrin precursors and porphyrins in three patients with acute intermittent porphyria and end-stage renal disease under different therapy regimes.

Sardh E, Andersson DE, Henrichson A, Harper P.

Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):66-71.PMID: 19268004 [PubMed - indexed for MEDLINE]Related articles

The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and molecular studies.

Granata BX, Parera VE, Melito VA, Teijo MJ, Batlle AM, Rossetti MV.

Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):61-5.PMID: 19268003 [PubMed - indexed for MEDLINE]Related articles

Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype.

Ged C, Moreau-Gaudry F, Richard E, Robert-Richard E, de Verneuil H.

Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):53-60. Review.PMID: 19268002 [PubMed - indexed for MEDLINE]Related articles