Results 181 to 190 of about 31,642 (216)

[Two siblings with congenital erythropoietic porphyria in one family: case report and literature review]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Yang YQ, Han Y, Zhang CL, Xie M.
europepmc   +1 more source

Cord blood porphyrin analysis in neonates at risk of inheriting protoporphyria: An observational cohort study. [PDF]

Br J Haematol
Schulenburg-Brand D, Peek R, Bentley L, Swingler R, Pavlova YT, Dawe RS, McGuire VA.   +6 more
europepmc   +1 more source

Acute Hepatic Porphyria Presenting as Guillain-Barré Syndrome: Importance of Early Recognition and Screening. [PDF]

Neurohospitalist
Yuvasai KP, Singh S, Pai PJ, Erla SR, Pannu AK.   +4 more
europepmc   +1 more source

Pruritic eruption on the extremities: Report of 2 generations treated with dupilumab. [PDF]

JAAD Case Rep
Hosking AM, Saeed L, Smith J.
europepmc   +1 more source

Characterizing hepatic porphyria: Insights from a quaternary care hospital in Bogotá, Colombia (2013-2023). [PDF]

J Int Med Res
Martínez-Ávila MC, Matijasevic-Arcila E, Pantoja-Chica S, Acosta-Cardozo AL.   +3 more
europepmc   +1 more source

Clinical Features and Outcomes of Acute Intermittent Porphyria Presenting With Acute Quadriparesis: A Case Series and Follow-Up Study. [PDF]

Eur J Neurol
Alhammad RM, Almutawa RA, Ali AS, Alkhawajah NM, Albulaihe HM, Osman AM, AlSheef MA, Alsayed AA, Sulaiman RA, Alharbi KJ.   +9 more
europepmc   +1 more source

Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review. [PDF]

Orphanet J Rare Dis
Xiong H, He S, Yang Z, Zheng R, Yu H.
europepmc   +1 more source

Efficacy and safety of givosiran in Japanese patients with acute hepatic porphyria: clinical findings from an expanded access study. [PDF]

Sci Rep
Ozaki N, Goto Y, Fujii N, Oyama T, Frascello K, Camejo A, Adachi T.   +6 more
europepmc   +1 more source

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

Treatment of Porphyria Cutanea Tarda Scarring With Combination Laser Treatment and a Pilot Use of Artificial Intelligence to Quantify Laser Results. [PDF]

J Cosmet Dermatol
Kesty CE, Kesty KR.
europepmc   +1 more source