Results 111 to 120 of about 13,719 (226)

Porphyria [PDF]

BMJ, 1953
openaire   +2 more sources

Symptomatic porphyria

South African Medical Journal, 2018
A study has been made of 7 alcoholic and 2 non-alcoholic patients with symptomatic porphyria. Siderosis (mild or absent in most cases), focal fatty change and lipofuscin pigmentation were noted on light microscopy while ultrastructural study revealed that focal cellular lysis was unexpectedly common.
Timme, AH, Dowdle, EB, Eales, L
openaire   +2 more sources

German Porphyria Registry (PoReGer)–Background and Setup

Porphyrias, as most rare diseases, are characterized by complexity and scarcity of knowledge. A national registry in one of the largest European populations that prospectively collects longitudinal clinical and laboratory data are an important and ...
Sabine von Wegerer, Kubisch, Ilja, Lea Gerischer, Gerischer, Lea, Stauch, Thomas, Fabian Braun, von Wegerer, Sabine, Nils Wohmann, Wohmann, Nils, Stölzel, Ulrich, Ilja Kubisch, Thomas Stauch, Christina Weiler-Normann, Mona Mainert, Weiler-Normann, Christina, Sabine Blaschke, Blaschke, Sabine, Rajan Somasundaram, Braun, Fabian, Jorge Frank, Ulrich Stölzel, Eva Diehl-Wiesenecker, Mainert, Mona, Diehl-Wiesenecker, Eva   +23 more
core   +1 more source

Unmasked acute intermittent porphyria in a patient with COVID-19-associated posterior reversible encephalopathy syndrome

BMC Neurology
Background Acute intermittent porphyria (AIP) is a rare but treatable disease. COVID-19 has various possible complications including posterior reversible encephalopathy syndrome (PRES).
Hideo Handa, Hiroki Masuda, Satoki Hanayama, Amika Kajiyama, Sawako Suzuki, Atsuhiko Sugiyama, Koutaro Yokote, Satoshi Kuwabara   +7 more
doaj   +1 more source

Porphyria [PDF]

Postgraduate Medical Journal, 1956
openaire   +2 more sources

The porphyrias

Clinics in Dermatology, 1996
H W, Lim, G M, Murphy
openaire   +2 more sources

Omniscience case study Porphyria

, 2016
A case of Porphyria with an added twist of Von Willebrands ...
Cameron, Elizabeth, Sands, Renee, Rudd, Donna   +2 more
core  

Laboratory Diagnostics Of Porphyria

, 2019
Tato bakalářská práce se zabývá laboratorní diagnostikou porfyrií. Porfyrie jsou způsobeny poruchou biosyntetické dráhy hemu. V první části bakalářské práce jsou popsány jednotlivé typy porfyrií a jejich projevy.
Špácová, Klára
core  

Updates to gene-disease classifications and inheritance patterns for porphyrias. [PDF]

Mol Genet Metab
Reeves EB, Hankey W, Clair PS, Goldstein JL, Wilke MVMB, Feigenbaum A, Hung C, Spector E, Craigen WJ.   +8 more
europepmc   +1 more source

A Diagnostic Challenge in the Emergency Department: Acute Intermittent Porphyria Unmasked After Cabergoline Exposure. [PDF]

Cureus
Mina C, Ghanem H, Matar N.
europepmc   +1 more source