Results 41 to 50 of about 2,338 (181)
A schematic outline of the study showing where seaweeds were harvested, how they were analyzed and then evaluated for micronutrients. ABSTRACT Seaweeds (macroalgae) are increasingly recognized as potential nutrient‐dense components of human diets and promising contributors to sustainable food systems.
Ibrahim Almosa +2 more
wiley +1 more source
Congenital erythropoietic porphyria (CEP), or Gunther disease, is a rare genetic disease responsible for severe dermatologic, hepatic and/or haematological damages related to the deficient activity of the uroporphyrinogen III synthase.
Pierre Peterlin +12 more
doaj +1 more source
Congenital erythropoietic porphyria: Two case reports
Porphyrias form a group of disorders caused due to defects in the haem synthetic pathway. Congenital erythropoietic porphyia (CEP) is the rarest of the bullous porphyrias (less than 200 cases have been reported till recent times) and a clinician may not ...
Sankha Koley, Vikrant Saoji
doaj +1 more source
IntroductionX-linked erythropoietic protoporphyria (XLEPP) is an ultra-rare inborn error of the heme biosynthesis characterised by the accumulation of large amounts of protoporphyrin IX (PPIX) and zinc-protoporphyrin in the erythrocytes. PPIX absorbs the
Anna-Elisabeth Minder +14 more
doaj +1 more source
The photodynamic and non-photodynamic actions of porphyrins
Porphyrias are a family of inherited diseases, each associated with a partial defect in one of the enzymes of the heme biosynthetic pathway. In six of the eight porphyrias described, the main clinical manifestation is skin photosensitivity brought about ...
S.G. Afonso +2 more
doaj +1 more source
Case for diagnosis. Sclerodermiform manifestations of porphyria cutanea tarda secondary to hepatitis C [PDF]
: A 63-year-old black female patient with blisters and exulcerations on the face, neck, upper limbs, and subsequent evolution with hypochromic sclerotic areas and alopecia, is reported.
Juliana de Oliveira Alves Calado +2 more
doaj +1 more source
Heme is a member of the porphyrins family of cyclic tetrapyrroles and influences various cell processes and signalling pathways. Enzyme deficiencies in the heme biosynthetic pathway provoke rare human inherited metabolic diseases called porphyrias ...
Maria Savino +11 more
doaj +1 more source
ABSTRACT Background Anti‐dipeptidyl‐peptidase‐like protein 6 encephalitis (DPPXE) is an exceptionally rare form of autoimmune encephalitis characterized by a highly heterogeneous clinical phenotype. Methods In this study, we report a Chinese patient presenting with severe abdominal pain as a prominent symptom; furthermore, we conducted a systematic ...
Difang Shi +7 more
wiley +1 more source
The “5L” framework of diagnostic reasoning: A stepwise scaffold to support clinician educators
Abstract Diagnostic reasoning (DR) is a core clinical skill, yet its teaching remains variable. We introduce the “5L” framework as a bedside teaching scaffold that gives educators and learners a shared, stepwise set of prompts for DR during individual encounters. By asking, “What's Lethal? What's Likely? What's Logical? What's Lurking?
Olivia Brumfield +3 more
wiley +1 more source
An overview of the cutaneous porphyrias [version 1; referees: 2 approved]
This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature.
Robert Dawe
doaj +1 more source

