The porphyrias
DM Bissell - Rosenberg's Molecular and Genetic Basis of …, 2015 - Elsevier
The porphyrias comprise eight genetic diseases, each corresponding to a specific defect in
the pathway of heme synthesis. Four are termed hepatic, because their clinical …
the pathway of heme synthesis. Four are termed hepatic, because their clinical …
[HTML][HTML] Acute hepatic porphyria
DM Bissell, B Wang - Journal of clinical and translational …, 2015 - ncbi.nlm.nih.gov
The porphyrias comprise a set of diseases, each representing an individual defect in one of
the eight enzymes mediating the pathway of heme synthesis. The diseases are genetically …
the eight enzymes mediating the pathway of heme synthesis. The diseases are genetically …
[HTML][HTML] Porphyria: what is it and who should be evaluated?
Y Edel, R Mamet - Rambam Maimonides medical journal, 2018 - ncbi.nlm.nih.gov
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 …
heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous …
Penetrance and predictive value of genetic screening in acute porphyria
K Baumann, R Kauppinen - Molecular genetics and metabolism, 2020 - Elsevier
Objective Penetrance, predictive value and female patients' perspectives on genetic testing
were evaluated among Finnish patients with acute porphyria. We conducted a retrospective …
were evaluated among Finnish patients with acute porphyria. We conducted a retrospective …
Porphyric neuropathy: pathophysiology, diagnosis, and updated management
M Kazamel, RJ Desnick, JG Quigley - Current neurology and neuroscience …, 2020 - Springer
Abstract Purpose of Review To review the peripheral neurological complications of the acute
hepatic porphyrias, as well as the latest advances in their pathophysiology and …
hepatic porphyrias, as well as the latest advances in their pathophysiology and …
Die Porphyrien
W Muschalek, MA Hermasch… - JDDG: Journal der …, 2022 - Wiley Online Library
Die Porphyrien sind klinisch variable und genetisch heterogene, vorwiegend hereditäre
metabolische Krankheiten, die durch eine Dysfunktion spezifischer Enzyme der …
metabolische Krankheiten, die durch eine Dysfunktion spezifischer Enzyme der …
Case‐based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management
M Balwani, S Keel, P Meissner, M Sonderup… - Liver …, 2024 - Wiley Online Library
The acute hepatic porphyrias (AHPs) include three autosomal dominant disorders, acute
intermittent porphyria, variegate porphyria and hereditary coproporphyria, and the ultra‐rare …
intermittent porphyria, variegate porphyria and hereditary coproporphyria, and the ultra‐rare …
A high urinary urobilinogen/serum total bilirubin ratio indicates acute hepatic porphyria in patients with abdominal pain
Acute hepatic porphyria (AHP) has always been a diagnostic dilemma for physicians due to
its variable symptoms. Correct diagnosis mainly depends on the detection of an elevated …
its variable symptoms. Correct diagnosis mainly depends on the detection of an elevated …
Acute Hepatic Porphyrias:“Purple Flags”—Clinical Features That Should Prompt Specific Diagnostic Testing
KE Anderson, RJ Desnick, MF Stewart… - The American Journal of …, 2022 - Elsevier
Background Porphyrias are a group of rare diseases leading to dysregulation in heme
biosynthesis and the accumulation of heme precursors, including porphyrinogens, which in …
biosynthesis and the accumulation of heme precursors, including porphyrinogens, which in …