Results 111 to 120 of about 1,952 (187)

Acute Protoporphyric Hepatopathy as the Initial Presentation of Erythropoietic Protoporphyria in Adulthood. [PDF]

ACG Case Rep J
Alsaleh T, Mohammed A, Karnam M, Roman T.   +3 more
europepmc   +1 more source

Burden of illness and unmet needs in patients with erythropoietic protoporphyria and X-linked protoporphyria: A large US nationwide claims analysis. [PDF]

J Manag Care Spec Pharm
DerSarkissian M, Norregaard C, Romdhani H, Muthukumar A, Bobbili P, Chin M, Liu W, Trinh L.   +7 more
europepmc   +1 more source

Porphyrias: Pathophysiology and clinical management recommendations for hepatologists. [PDF]

Hepatol Commun
Ricci A, Corradini E, Buzzetti E, Pietrangelo A, Pietrangelo A, Ventura P, Modena Centre of Rare Diseases - Porphyria Working Group.   +6 more
europepmc   +1 more source

Blocking extracellular glycine uptake mediated by GlyT1 mitigates protoporphyria. [PDF]

J Clin Invest
Liesa M.
europepmc   +1 more source

Development and Content Validation of Novel Patient-Reported Outcome Measures to Assess Disease Severity and Change in Patients with Erythropoietic Protoporphyria: The EPP Impact Questionnaire (EPIQ)

Patient Related Outcome Measures
Susan D Mathias,1 Laurie Burke,2 Hilary H Colwell,1 George Mensing,3 Will Savage,3 Hetanshi Naik4 1Health Outcomes Solutions, Palm Beach Gardens, FL, USA; 2LORA Group, Normal, IL, USA; 3Disc Medicine, Watertown, MA, USA; 4Department of Genetics, Stanford
Mathias SD, Burke L, Colwell HH, Mensing G, Savage W, Naik H   +5 more
doaj  

Impact of delay in diagnosis in patients with erythropoietic protoporphyria: A cross-sectional survey study. [PDF]

JAAD Int
Tran B, Raef H, Rebeiz L, Wheeden K, Elmariah SB, Anderson KE, Leaf RK, Naik H, Dickey AK.   +8 more
europepmc   +1 more source

Challenges in the pathological diagnosis of erythropoietic protoporphyria: a case report. [PDF]

Front Med (Lausanne)
Yang T, Chen C, Li C, Wang J.
europepmc   +1 more source

An unusual case of erythropoietic protoporphyria mimicking lipoid proteinosis

Indian Journal of Dermatology, 2019
Sarabjit Kaur, Parul Aggarwal, Ankita Sangwan, Kamal Aggarwal, Surabhi Dayal, Vijay Kumar Jain   +5 more
doaj   +1 more source

Glycine transport inhibitors for the treatment of chronic pain conditions: the time is ripe for clinical evaluation! [PDF]

Front Mol Neurosci
Eulenburg V, Cioffi CL, Roy A, Vandenberg RJ.   +3 more
europepmc   +1 more source

Erythropoietic Protoporphyria [PDF]

, 2020
openaire   +2 more sources