Results 61 to 70 of about 11,286 (212)

Circadian Genes Expression Patterns in Disorders Due to Enzyme Deficiencies in the Heme Biosynthetic Pathway

open access: yesBiomedicines, 2022
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

The photodynamic and non-photodynamic actions of porphyrins

open access: yesBrazilian Journal of Medical and Biological Research, 1999
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

A family with acute intermittent porphyria [PDF]

open access: yes, 2008
Porphyrias are inherited defects in heme metabolism that result in excessive secretion of porphyrins and porphyrin precursors. Porphyrias can be classified into acute, (neuropsychiatric), cutaneous and mixed forms.
Billoo, Abdul Gaffar, Lone, Saira Waqar
core   +1 more source

Endogenous Levels, Detection Time, and Symptoms of Gamma‐Hydroxybutyric Acid: Results From a Placebo‐Controlled Clinical Trial

open access: yesBasic &Clinical Pharmacology &Toxicology, Volume 137, Issue 6, December 2025.
ABSTRACT Gamma‐hydroxybutyric acid (GHB), a potential agent in drug‐facilitated sexual assault, is difficult to detect due to rapid elimination, endogenous presence, and possible postsampling formation. We conducted a randomised, placebo‐controlled trial in 30 healthy volunteers, administering 50‐mg/kg sodium oxybate or placebo, to investigate symptoms,
Kathrine Bohn Faldborg   +3 more
wiley   +1 more source

Skin Fragility and Hyperpigmentation in a Patient With HIV

open access: yes
JEADV Clinical Practice, EarlyView.
Catalina Retamal   +2 more
wiley   +1 more source

The Efficacy and Safety of Synchronous Parallel Ultrasound for the Clinical Improvement of Cellulite Using High‐Density Handpiece

open access: yesJournal of Cosmetic Dermatology, Volume 24, Issue 12, December 2025.
ABSTRACT Background Cellulite is a common aesthetic condition of the skin, predominantly affecting more than 90% of postpubertal females. Energy‐based devices (EBDs) have demonstrated efficacy in treating a variety of dermatologic concerns. A controlled thermal injury to the dermis can stimulate remodeling of the extracellular matrix (ECM), leading to ...
Michael H. Gold   +6 more
wiley   +1 more source

Kinetic evaluation of human cloned coproporphyrinogen oxidase using a ring isomer of the natural substrate [PDF]

open access: yes, 2005
Background: The enzyme coproporphyrinogen oxidase (copro\u27gen oxidase) converts coproporphyrinogen-Ill (GIII) to protoporphyrinogen-IX via an intermediary monovinyl porphyrinogen. The A ring isomer coproporphyrinogen-IV (C-IV) has previously been shown
Cooper, Christopher L   +2 more
core   +1 more source

A review of photodiagnostic investigations over 26 years:experience of the National Scottish Photobiology Service (1989-2015) [PDF]

open access: yes, 2017
Background The Scottish Photobiology Service is the national referral pathway for patients with cutaneous photosensitivity diseases in Scotland. We reviewed the pattern of diagnosis of photosensitivity diseases and investigations performed between 1989 ...
Dawe, Robert   +3 more
core   +3 more sources

Recent Advancements in Known and Emerging Risk Factors of Hepatocellular Carcinoma

open access: yesCancer Medicine, Volume 14, Issue 21, November 2025.
ABSTRACT Background Hepatocellular carcinoma (HCC) is the most common primary liver malignancy and a leading cause of cancer‐related deaths worldwide. Despite advancements in antiviral therapies for hepatitis B (HBV) and hepatitis C (HCV), HCC incidence continues to rise due to metabolic dysfunction‐associated steatotic liver disease (MASLD), obesity ...
Muhammad Masroor Hussain   +5 more
wiley   +1 more source

Presentations associated with porphyrias in intensive care units

open access: yesSouthwest 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  

Home - About - Disclaimer - Privacy