Results 81 to 90 of about 1,371 (158)

The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria

JAAD Case Reports, 2017
Megumi Mizawa, MD, PhD, Teruhiko Makino, MD, PhD, Fumina Furukawa, MD, Ryotaro Torai, MD, Hajime Nakano, MD, PhD, Daisuke Sawamura, MD, PhD, Tadamichi Shimizu, MD, PhD   +6 more
doaj   +1 more source

Heme arginate improves acute liver failure secondary to erythropoietic protoporphyria: a case report. [PDF]

Front Med (Lausanne)
Ni H, Chen B, Huang A, Zhang T, Li H, Tang S.   +5 more
europepmc   +1 more source

Updates to gene-disease classifications and inheritance patterns for porphyrias. [PDF]

Mol Genet Metab
Reeves EB, Hankey W, Clair PS, Goldstein JL, Wilke MVMB, Feigenbaum A, Hung C, Spector E, Craigen WJ.   +8 more
europepmc   +1 more source

Key role of Levitt's carbon monoxide breath test in revealing coexistent Gilbert syndrome and erythropoietic protoporphyria: A case report. [PDF]

World J Clin Cases
Kang LL, Zhang HD.
europepmc   +1 more source

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

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  

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

Jaundice in an Adult Female Patient With Photosensitivity. [PDF]

ACG Case Rep J
Falcón-Antonio OE, Aguirre-Villarreal D, Martínez-Sánchez FD, García-Juárez I.   +3 more
europepmc   +1 more source