Search Results

Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study.

• Authors : Baravelli, Carl Michael; Aarsand, Aasne Karine; Sandberg, Sverre

• Source: Orphanet Journal of Rare Diseases. February 21, 2020, Vol. 15 Issue 1.

Record details

Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients.

• Authors : Ferrer, Miguel D.; Mestre-Alfaro, Antonia; Martínez-Tomé, Magdalena

• Source: PLoS ONE. October 27, 2016, Vol. 11 Issue 10, e0164857.

Record details

Causal effect of porphyria biomarkers on alcohol-related hepatocellular carcinoma through Mendelian Randomization.

• Authors : Yang, Xiaoyu; Wang, Shuomin; Sun, Chen

• Source: PLoS ONE. March 20, 2024, Vol. 19 Issue 3, e0299536.

Record details

Recent Insights into the Pathogenesis of Acute Porphyria Attacks and Increasing Hepatic PBGD as an Etiological Treatment.

• Authors : Jericó, Daniel; Córdoba, Karol M.; Sampedro, Ana

• Source: Life (Basel). November, 2022, Vol. 12 Issue 11.

Record details

Maternal genetic diseases: potential concerns for mother and baby.

• Authors : Stone, Julie; Reed, Dallas

• Source: Human Genetics. September, 2020, Vol. 139 Issue 9, p1173, 10 p.

Record details

Common genetic etiology between 'multiple sclerosis-like' single-gene disorders and familial multiple sclerosis.

• Authors : Traboulsee, Anthony L.; Sadovnick, A. Dessa; Encarnacion, Mary

• Source: Human Genetics. June, 2017, Vol. 136 Issue 6, p705, 10 p.

Record details

Novel human pathological mutations.

• Source: Human Genetics. April, 2010, Vol. 127 Issue 4, p463, 28 p.

Record details

Novel human pathological mutations.

• Source: Human Genetics. August, 2009, Vol. 126 Issue 2, p329, 24 p.

Record details

Novel human pathological mutations.

• Source: Human Genetics. April, 2009, Vol. 125 Issue 3, p333, 20 p.

Record details

Novel human pathological mutations.

• Source: Human Genetics. October, 2008, Vol. 124 Issue 3, p293, 32 p.

Record details