Results 131 to 140 of about 27,170 (181)

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

OATP1B1/1B3 deficiency exacerbates hyperbilirubinemia in erythropoietic protoporphyria. [PDF]

Drug Metab Dispos
Gu R, Qin FY, Wang L, Zhang J, Emerson J, Ma Q, Lu J, Anderson KE, Wang J, Ma X.   +9 more
europepmc   +1 more source

Liver involvement in a large cohort of patients with erythropoietic protoporphyria or X-linked protoporphyria. [PDF]

Hepatol Commun
Levy C, Naik H, Overbey J, Hedstrom K, Wang K, McDonough C, Freeman M, Keel SB, Erwin AL, Dickey AK, Leaf RK, Quigley J, Mazepa M, Wang B, Phillips J, Parker C, McGuire B, Kazamel M, Bonkovsky H, Rudnick S, Anderson KE, Moghe A, Thapar M, Saberi B, Wheeden K, Desnick R, Balwani M, Porphyrias Consortium of the Rare Diseases Clinical Research Network.   +27 more
europepmc   +1 more source

Sun Protection Behaviours and Photosensitivity in Japanese Children: Toyama Adjunct Study of Japan Environment and Children's Study (JECS). [PDF]

Acta Derm Venereol
Mizawa M, Matsumura K, Makino T, Tsuchida A, Inadera H, Shimizu T.   +5 more
europepmc   +1 more source

Letter to the Editor - Qualitative evidence submitted by patients to NICE: need for more quality or unrealistic and unfair requirements? [PDF]

J Comp Eff Res
Falchetto R, Barman-Aksözen J.
europepmc   +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

Letter to the Editor: 'Rare but relevant: Genetic liver disease in the general medical setting'. [PDF]

Clin Med (Lond)
McCarron EP.
europepmc   +1 more source

Porphyria Cutanea Tarda: A Phenotypic Expression of Several Genes. [PDF]

Cureus
Vázquez-Folch SJ, Jimenez-Berrios GA, Izquierdo N, Vazquez V.   +3 more
europepmc   +1 more source

Editorial: Molecular mechanisms and precision medicine in rare diseases. [PDF]

Front Mol Biosci
Rodriguez Cetina Biefer H, Elkhal A, Moutaoufik MT.   +2 more
europepmc   +1 more source

The Impact of Minimal Sunlight Exposure on Bone Health: Insights From a Cohort Study in Erythropoietic Protoporphyria.

J Clin Endocrinol Metab
Kluijver LG, Wagenmakers MAEM, Wilson JHP, Langendonk JG.   +3 more
europepmc   +1 more source