Advances in Diagnosis and Treatment of Porphyrias
A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".
Deadline for manuscript submissions: closed (30 November 2021) | Viewed by 30381
Special Issue Editor
Interests: porphyrias; homocysteine; liver cirrhosis; portal hypertension; hepatocellular carcinoma; liver transplantation; portal vein thrombosis
Special Issue Information
Dear Colleagues,
Porphyrias are a complex group of rare and mostly inherited metabolic disorders of heme biosynthesis. They are characterized by confusing or easily misleading clinical features, mostly requiring appropriate knowledge to be correctly diagnosed and treated in order to avoid possible severe progression to fatal events.
The aim of this Special Issue is to provide the readers with the latest advances in the diagnosis and treatment of porphyrias. The volume will be intended for clinicians working in emergency, internal and general medicine, laboratory, gastroenterology, hematology, dermatology, medical genetics, neurology, neurology and psychology/psychiatric units. Among the topics, we will consider biochemical and/or genetic diagnosis of porphyrias, covering from classical to the latest laboratory techniques, including the quality control schemes, such as algorithms for differential diagnosis, available for porphyrias. Clinical and/or genetic epidemiology and natural history data of these diseases will be included as well. The treatment of porphyrias, including the latest novel approaches and clinical trial results, will be another topic of the Issue. Special attention will be also given to the molecular basis of diseases and the molecular targets of the most recently available treatments. Psychosocial aspects related to porphyrias are also an emerging issue in this field, and thus these aspects could also be covered, even considering their great interest in the future. Mini-reviews, short reports and original articles covering these aspects will be considered for this Special Issue.
Dr. Paolo Ventura
Guest Editor
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- Porphyrias
- Acute hepatic porphyrias
- Erythropoietic protoporphyria
- Porphyria cutanea tarda
- Congenital erythropoietic porphyria
- Genetic diagnosis
- Biochemical analysis
- Quality control
- Delta-aminolevulinic acid (ALA)
- Neurotoxicity
- Photodermatoses
- Enzymatic therapy
- Molecular therapy
- Psychological aspects
- Quality of life (QoL) assessment
- Liver and renal failure
- Neurological complications
- Hepatocellular carcinoma
Benefits of Publishing in a Special Issue
- Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
- Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
- Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
- External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
- e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.
Further information on MDPI's Special Issue polices can be found here.