Results 81 to 90 of about 7,531,846 (135)

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

Self-reported perspective in rare genetic diseases: a systematic review of patient-reported outcome measures classified using the international classification of functioning, disability and health framework. [PDF]

J Patient Rep Outcomes
Simeon R, Usai M, Tramonti A, Canova R, Frigerio D, Berardi A, Pelosin E, Cosentino C.   +7 more
europepmc   +1 more source

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

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