Edith H. Friesema

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 26 publications

LR11/SorLA and its role in cardiovascular disease.

LR11/SorLA and its role in cardiovascular disease.

Journal: International journal of cardiology. Heart & vasculature

Published: April 20, 2026

Treating a patient with ADP porphyria through suppression of both hepatic and erythroid ALA production.

Treating a patient with ADP porphyria through suppression of both hepatic and erythroid ALA production.

Journal: Orphanet journal of rare diseases

Published: October 08, 2025

Triglyceride-rich lipoprotein sphingolipids are altered in primary hypertension: A pilot case-control study.

Triglyceride-rich lipoprotein sphingolipids are altered in primary hypertension: A pilot case-control study.

Journal: Journal of clinical lipidology

Published: November 18, 2024

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.

Journal: American journal of human genetics

Published: March 07, 2023

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.

Journal: bioRxiv : the preprint server for biology

Published: February 17, 2023

Mortality in Pedigrees with Acute Intermittent Porphyria.

Mortality in Pedigrees with Acute Intermittent Porphyria.

Journal: Life (Basel, Switzerland)

Published: October 20, 2022

Association of Afamelanotide With Improved Outcomes in Patients With Erythropoietic Protoporphyria in Clinical Practice.

Association of Afamelanotide With Improved Outcomes in Patients With Erythropoietic Protoporphyria in Clinical Practice.

Journal: JAMA dermatology

Published: March 19, 2020

Short-Term, Combined Fasting and Exercise Improves Body Composition in Healthy Males.

Short-Term, Combined Fasting and Exercise Improves Body Composition in Healthy Males.

Journal: International journal of sport nutrition and exercise metabolism

Published: March 10, 2020

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 28, 2019

Vasodilation through levodopa for Parkinson's disease may require high left ventricular assist device flow.

Vasodilation through levodopa for Parkinson's disease may require high left ventricular assist device flow.

Journal: Journal of cardiac surgery

Published: December 18, 2018

Correction to: Medical and financial burden of acute intermittent porphyria.

Correction to: Medical and financial burden of acute intermittent porphyria.

Journal: Journal of inherited metabolic disease

Published: July 29, 2018

Multiple effects of cold exposure on livers of male mice.

Multiple effects of cold exposure on livers of male mice.

Journal: The Journal of endocrinology

Published: April 24, 2018

Showing 1-12 of 26

Last Updated: 09/26/2026