Clinical guide and update on porphyrias

U Stölzel, MO Doss, D Schuppan - Gastroenterology, 2019 - Elsevier
Physicians should be aware of porphyrias, which could be responsible for unexplained
gastrointestinal, neurologic, or skin disorders. Despite their relative rarity and complexity …

Porphyria: awareness is the key to diagnosis!

B Heymans, W Meersseman - Acta Clinica Belgica, 2022 - Taylor & Francis
Porphyrias are disorders of the haem biosynthesis which are encountered infrequently and
which often present themselves atypically as a combination of gastrointestinal, neurologic …

Health-related quality of life in porphyria cutanea tarda: A cross-sectional registry based study

J Andersen, J Thomsen, ÅR Enes, S Sandberg… - Health and Quality of …, 2020 - Springer
Background Porphyria cutanea tarda (PCT) is a rare, photosensitive disease characterized
by skin fragility and blistering on sun-exposed areas. There is little previous research on …

Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy

JM Blouin, C Ged, G Bernardo-Seisdedos… - Molecular Genetics and …, 2021 - Elsevier
Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder of the heme
biosynthetic pathway that is characterized by uroporphyrinogen III synthase (UROS) …

[HTML][HTML] Cutanea tarda porphyria

A Shah, H Bhatt - 2020 - europepmc.org
Cutanea Tarda Porphyria - Abstract - Europe PMC Sign in | Create an account https://orcid.org
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Prevalence of iron overload in patients with chronic kidney disease on peritoneal dialysis: A scoping review

AJ Nashwan, MT Abuawwad, JH Jaradat… - Health Science …, 2024 - Wiley Online Library
Abstract Background and Aims Chronic kidney disease (CKD) patients undergoing
peritoneal dialysis (PD) are susceptible to complications, including iron overload, which can …

[图书][B] The Netter Collection of Medical Illustrations: Integumentary System, Volume 4-E-Book: The Netter Collection of Medical Illustrations: Integumentary System …

BE Anderson - 2023 - books.google.com
Offering a concise, highly visual approach to the basic science and clinical pathology of the
integumentary system, this updated volume in The Netter Collection of Medical Illustrations …

Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study

CM Baravelli, AK Aarsand, S Sandberg… - Orphanet journal of rare …, 2022 - Springer
Background Porphyria cutanea tarda (PCT) is a skin disorder caused by a defect in the liver
enzyme uroporphyrinogen decarboxylase and is associated with hepatitis C virus infection …

[PDF][PDF] Porphyrien–was ist gesichert?

U Stölzel, I Kubisch, T Stauch - Internist, 2018 - researchgate.net
Porphyrien sind überwiegend hereditär bedingte Stoffwechselkrankheiten der
Hämbiosynthese, die durch spezifische biochemische Muster von Porphyrinen und …

Porphyria cutanea tarda in Scotland: underlying associations and treatment approaches

C Chaiyabutr, R Dawe, SH Ibbotson… - International Journal …, 2024 - Wiley Online Library
Background Despite its rarity, porphyria cutanea tarda (PCT) is globally recognized as the
most common form of cutaneous porphyria. This study aims to review the underlying …