Results 211 to 220 of about 36,453 (301)

A case report of acute intermittent porphyria presenting with reversible cerebral vasoconstriction syndrome. [PDF]

Medicine (Baltimore)
Rao W, Li L, Wu L, Chai W, Li J.
europepmc   +1 more source

Haplotype Analysis of Norwegian and Swedish Patients with Acute Intermittent Porphyria (AIP): Extreme Haplotype Heterogeneity for the Mutation R116W [PDF]

, 2003
Kjersti Tjensvoll, Ove Bruland, Ylva Flodérus, Øyvind Skadberg, Sverre Sandberg, Jaran Apold   +5 more
openalex   +1 more source

Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene

, 2000
Risha B. Ramdall, Luis F. Cunha, Kenneth H. Astrin, David R. Katz, Karl E. Anderson, Marc Glucksnian, Sylvia S. Bottomley, Robert J. Desnick   +7 more
openalex   +1 more source

Unmasking Osmotic Demyelination Syndrome/Extrapontine Myelinolysis in Acute Intermittent Porphyria: Preventable Complications-Challenges in Diagnosis and Management. [PDF]

Ann Indian Acad Neurol
Gowda VK, Nayak PA, Kinhal UV, Roy A, Srinivasan VM.   +4 more
europepmc   +1 more source

Neuralgic amyotrophy presentation of acute intermittent porphyria: A case report. [PDF]

J Peripher Nerv Syst
Theuriet J, Gerfaud-Valentin M, Durel CA, Gouya L, Pegat A.   +4 more
europepmc   +1 more source

Peter Voswinckel: Der schwarze Urin: Vom Schrecknis zum Laborparameter. Urina Nigra. Alkaptonurie, Hämoglobinurie, Myoglobinurie, Porphyrinurie, Melanurie. [PDF]

, 1994
Bauer, Axel W.
core   +1 more source

A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome

, 2020
Yang Yang, Xiyun Chen, Huijuan Wu, Hua Peng, Wenjing Sun, Bin He, Zhengang Yuan   +6 more
openalex   +2 more sources

Palliative Care Aspects of Acute Intermittent Porphyria - A Case Report. [PDF]

Indian J Palliat Care
Abraham NS, Mishra S, Vig S.
europepmc   +1 more source

Effects of internet-based health education on patients with acute intermittent porphyria. [PDF]

Orphanet J Rare Dis
Zhao L, Liu Y, Li J, Li P, Zhao X, Zhang S.   +5 more
europepmc   +1 more source

Intestinal malrotation as a misdiagnosis of pediatric colchicine resistant familial Mediterranean fever [PDF]

, 2015

core   +1 more source