Results 51 to 60 of about 2,338 (181)
A Rare Clinical Presentation of Variegate Porphyria
Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.WGS redirected the diagnostic focus, underscoring the complex interplay between porphyria and a potential MYMK‐related neuromuscular phenotype. ABSTRACT Background Variegate porphyria is a rare heme biosynthesis disorder caused by pathogenic variants in the PPOX gene.
I. Viakhireva +5 more
wiley +1 more source
The Journal of Dermatology, Volume 53, Issue 6, Page 930-933, June 2026.ABSTRACT A 50‐year‐old female patient was referred to our department for consultation regarding perioperative management of breast cancer surgery. She had a history of photosensitivity since childhood and was diagnosed with erythropoietic protoporphyria (EPP) during her first pregnancy.
Fumika Tateishi +5 more
wiley +1 more source
Presentations associated with porphyrias in intensive care units
Southwest Respiratory and Critical Care Chronicles, 2016 Porphyrias are a group of uncommon congenital metabolic diseases that are difficult to diagnose as they often present with nonspecific symptoms, mimicking other diseases.
Doungporn Ruthirago +2 more
doaj
Porphyria: What Is It and Who Should Be Evaluated?
Rambam Maimonides Medical Journal, 2018 The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme.
Yonatan Edel, Rivka Mamet
doaj +1 more source
MedComm, Volume 7, Issue 5, May 2026.Schematic diagram of mRNA‐lipid nanoparticles (mRNA‐LNP) and its functional mechanisms, applications, and challenges in cell engineering. This figure details the structural composition of mRNA‐LNPs and the delivery strategy, highlighting three core challenges.
Lina Li +9 more
wiley +1 more source
Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies
Case Reports in Genetics, 2020 Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates.
G. N. Cerbino +6 more
doaj +1 more source
Experimental Dermatology, Volume 35, Issue 5, May 2026.ABSTRACT Water‐filtered infrared‐A (wIRA) has been proposed to enhance tissue perfusion and modulate fibrosis, but clinical evidence in morphea (localised scleroderma) is limited. We conducted a prospective, intra‐individual pilot split‐study in 10 adults (six female; mean age 47.6 ± 19.0 years).
J. F. Wregg +7 more
wiley +1 more source
Reversible cerebral vasoconstriction syndrome: A narrative review
Headache: The Journal of Head and Face Pain, Volume 66, Issue 5, Page 1162-1180, May 2026.Abstract Objectives/Background This review summarizes current insights into Reversible cerebral vasoconstriction syndrome (RCVS) diagnosis, management, and outcomes. RCVS is a cerebrovascular disorder characterized by recurrent thunderclap headaches and transient segmental vasoconstriction of cerebral arteries, typically resolving within 3 months ...
Ícaro Araújo de Sousa +7 more
wiley +1 more source
Journal of XenobioticsHeme enzyme dysfunction causes a group of diseases called porphyrias. Particularly, a decrease in porphobilinogen deaminase, involved in the third step of heme biosynthesis, leads to acute intermittent porphyria (AIP).
Johanna Romina Zuccoli +3 more
doaj +1 more source
A Multifaceted Holistic Review of the Literature on Scar Dermatoses
International Wound Journal, Volume 23, Issue 5, May 2026.ABSTRACT Many cutaneous diseases originate or manifest in scars. Scars are areas of compromised skin, which renders them a vulnerable cutaneous district for diseases to develop. The pathophysiology explaining why some dermatoses grow in scars is not yet thoroughly explored. The present study reviews the present literature on scar dermatoses.
Dana Maria Khoury +5 more
wiley +1 more source