Results 1 to 10 of about 1,411 (134)

A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria. [PDF]

Liver Int
Merati M, Jayakumar N, Kapoor Y, Naik H, Balwani M, Anderson KE, Bonkovsky HL, Desnick RJ, McGuire B, Phillips J, Bissell DM, Wang B.   +11 more
europepmc   +1 more source

Successful Pregnancy After Combined Liver and Renal Transplantation in a Patient With Acute Intermittent Porphyria. [PDF]

Case Rep Transplant
Petrides PE, Andrassy J, Guba M, Stangl M, Bronisch O, Beykirch MK.   +5 more
europepmc   +1 more source

Diagnostic and Therapeutic Challenges in an Acute Variegate Porphyric Crisis Complicated by Anuric Renal Failure and Multiorgan Dysfunction: A Case Report. [PDF]

Am J Case Rep
Conroy PB, Davel S, Malherbe JAJ, Carrivick SJ, Briggs EN.   +4 more
europepmc   +1 more source

Porphyria cutanea tarda: a unique iron-related disorder. [PDF]

Hematology Am Soc Hematol Educ Program
Leaf RK, Dickey AK.
europepmc   +1 more source

Human Chorionic Gonadotropin (hCG) Injections Exacerbating Acute Intermittent Porphyria in a 34-Year-Old Woman. [PDF]

Cureus
Ali M, Iqbal S.
europepmc   +1 more source

Liver involvement in a large cohort of patients with erythropoietic protoporphyria or X-linked protoporphyria. [PDF]

Hepatol Commun
Levy C, Naik H, Overbey J, Hedstrom K, Wang K, McDonough C, Freeman M, Keel SB, Erwin AL, Dickey AK, Leaf RK, Quigley J, Mazepa M, Wang B, Phillips J, Parker C, McGuire B, Kazamel M, Bonkovsky H, Rudnick S, Anderson KE, Moghe A, Thapar M, Saberi B, Wheeden K, Desnick R, Balwani M, Porphyrias Consortium of the Rare Diseases Clinical Research Network.   +27 more
europepmc   +1 more source

Heme (dys)homeostasis and liver disease. [PDF]

Front Physiol
Duarte TL, Viveiros N, Godinho C, Duarte D.   +3 more
europepmc   +1 more source

New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model. [PDF]

J Intern Med
Di Pierro E, Solares I, Jericó D, Castelbón FJ, Solera JT, Riera-Mestre A, Barreda-Sánchez M, Poci C, Nicolli A, Urigo F, Sampedro A, de Salamanca RE, Marcacci M, Ávila MA, Harper P, Fanlo-Maresma MG, Guillén-Navarro E, Graziadei G, Wenzel A, Beck BB, Ventura P, Morales-Conejo M, Fontanellas A.   +22 more
europepmc   +1 more source

New pharmacotherapies for the erythropoietic protoporphyrias: an analysis of trial protocols from a patient perspective. [PDF]

Orphanet J Rare Dis
Dechant C, Wäscher S, Granata F, Gusset N, Pettersson M, Aksözen MH, Höglinger M, Falchetto R, Barman-Aksözen J.   +8 more
europepmc   +1 more source

Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report. [PDF]

J Med Case Rep
Schacht G, Elbracht M, Minder AE, Stauch T, Stoppe A, Lausberg E, Häusler M.   +6 more
europepmc   +1 more source