Results 51 to 60 of about 634 (79)

Homozygous variegate porphyria: Two cases misdiagnosed as erythropoietic protoporphyria. [PDF]

Mol Genet Metab Rep
Wang C, Bensaber N, Rebeiz L, Tran B, Tortorelli S, Kyle K, Yalom LK, Moghe A, Anderson KE, Leaf RK, Yeung AK.   +10 more
europepmc   +1 more source

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

J Clin Invest
Liesa M.
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

Pathogenesis and clinical management of liver damage in porphyrias: Mechanisms and therapeutic approaches. [PDF]

World J Hepatol
Zeng T, Huang SY, Chen JN, Pang JH, Chong YT, Li XH.   +5 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

Seen on screen, missed in clinic: educational pearls from <i>House M.D.</i> - a reflective educational article on fictional cases in dermatology. [PDF]

Skin Health Dis
Shanshal M.
europepmc   +1 more source

Key contemporary considerations for halogens in drug discovery. [PDF]

Future Med Chem
Ali S, Zhou J.
europepmc   +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

Haematological parameters in erythropoietic protoporphyria: A multi-national study. [PDF]

Br J Haematol
Leaf RK, Ricci A, Tran B, Corradini E, Pietrangelo A, Mancini C, Garuti C, Saltini D, Schepis F, Kubisch I, Wohmann N, Stölzel U, Jiang PY, Jang S, Bensaber N, Rebeiz L, Wang C, Buzney E, Trinidad J, Anderson KE, Wahlin S, Ventura P, Dickey AK.   +22 more
europepmc   +1 more source

Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management. [PDF]

Liver Int
Minder AE, Kluijver LG, Barman-Aksözen J, Minder EI, Langendonk JG.   +4 more
europepmc   +1 more source