Results 221 to 230 of about 36,453 (301)

Acute intermittent porphyria: a disease with low penetrance and high heterogeneity. [PDF]

Front Genet
Lei JJ, Li S, Dong BX, Yang J, Ren Y.
europepmc   +1 more source

Unraveling Complexity: Acute Intermittent Porphyria Complicated by Rhabdomyolysis and Acute Pancreatitis. [PDF]

Cureus
Norman J, Soliman M.
europepmc   +1 more source

Recurrent abdominal pain as principal clinical manifestation of acute intermittent porphyria: A case report and literature review

, 2017
Li-Jing Lei, Yonghong Guo, Yuan Yang
openalex   +1 more source

From the Editor’s desk...: October 2016 [PDF]

, 2016
Bataller, R, Berg, T, Jalan, R, Moreau, R, Zucman-Rossi, J   +4 more
core  

Hydroxymethylbilane Synthase Gene Mutation: The Hidden Driver of Abdominal Pain and Neurological Symptoms in Acute Intermittent Porphyria

Abeer Zakariyah, Rahaf Khaled AL-Zahrani, Iman Alhazmi, Alia Abotaleb, Mohammed Alasmari, Abdulrahim Basendwah, Rasha Alsubaie, Muhammad Sohaib Khan, Leena Alnajjar, Sultan Altouri   +9 more
openalex   +1 more source

First presentation of acute intermittent porphyria with steroid-responsive encephalopathy associated with autoimmune thyroiditis [PDF]

M. W. K. De Zoysa, W. Uluwattage, Eresha Jasinge, E. W. B. Edirisinghe   +3 more
openalex   +1 more source

A novel <i>HMBS</i> gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings. [PDF]

Front Genet
Dong W, Zeng B, Wang X, Zhang R, Huang P, Fan B, Yuan M, Li Z.   +7 more
europepmc   +1 more source

Abdominal pain in a patient with acute lymphoblastic leukaemia [PDF]

, 2018
Breitenstein, Alexander, Goede, Jeroen, Kühne, Reto, Marek, Aleksandra, Minder, Elisabeth, Renner, Christoph, Schanz, Urs   +6 more
core  

Unveiling the Chameleon: A Case Report on Acute Intermittent Porphyria. [PDF]

Cureus
Shrestha M, Amin S, Reggio C, Pokhrel A, Munankami S, Nypaver J, Gupta R, Donato A.   +7 more
europepmc   +1 more source

Baseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran. [PDF]

Mol Genet Metab Rep
Kuo HC, Ro LS, Lin CN, Chu CC, Liao MF, Chang HS.   +5 more
europepmc   +1 more source