Results 181 to 190 of about 8,276 (254)

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

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  

Acute intermittent porphyria: identification of novel variant in the HMBS gene

Camila Rodrigues Nepomuceno, Nayara de Paula Guerreiro, Maria Fernanda Hamamoto Leati, Andre Vinicio Cruz Mesias, Gabriella Corrêa Dousseau, Daniel Thomas Pereira Lopes, Cristiane Araújo Martins Moreno, Arthur de Medeiros Dias, Ana Cláudia Piccolo, Maria Sheila Guimarães Rocha   +9 more
openalex   +1 more source

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

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

German Real-World Experience of Patients with Diverse Features of Acute Intermittent Porphyria Treated with Givosiran. [PDF]

J Clin Med
Kubisch I, Wohmann N, Wissniowski TT, Stauch T, Oettel L, Diehl-Wiesenecker E, Somasundaram R, Stölzel U.   +7 more
europepmc   +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

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