Results 101 to 110 of about 16,235 (263)
The Management of Motor Neuropathy With Plasmapheresis in a Patient With Acute Porphyria: A Case Report. [PDF]
Cureus, 2023 Maqbool U +4 more
europepmc +1 more source
A rare clinical case-buschke's scleredema [PDF]
, 2015 A clinical case of rare disease of the skin-Buschker's scleredema was described in the article.
Julei, L.O., Mudriak, L.V.
core
Mitochondrial DNA Copy Number Drives the Penetrance of Acute Intermittent Porphyria [PDF]
, 2023 Elena Di Pierro +7 more
openalex +1 more source
Acute intermittent porphyria: a test of clinical acumen
Journal of Community Hospital Internal Medicine Perspectives, 2017 Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors.
Rashmi Dhital +3 more
doaj +1 more source
Clinical Challenges of Acute Porphyria in the Young Adult. [PDF]
Neurohospitalist, 2022 Burns S +6 more
europepmc +1 more source
Acute Porphyria with Severe Neurological Changes [PDF]
, 1950 L. G. Kiloh, Suzanne M. Nevin
openalex +1 more source
Case Reports in TransplantationAcute intermittent porphyria is a rare inborn disease of porphyrin metabolism which can cause severe abdominal pain attacks and neurological symptoms. Here, we report a patient with a 20-year history of severe chronic manifestations of acute intermittent
Petro E. Petrides +5 more
doaj +1 more source
Unexpected presentation of acute porphyria. [PDF]
BMJ Case Rep, 2021 Kiew CK, Lam ASEL.
europepmc +1 more source
Photosensitivity Skin Disorders in Childhood [PDF]
, 2010 Photosensitivity in childhood is caused by a diverse group of diseases. A specific sensitivity of a child’s skin to ultraviolet light is often the first manifestation or a clinical symptom of photodermatosis.
Ines Sjerobabski-Masnec +4 more
core +1 more source