Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450 isoenzymes,...
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase01:27

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Biallelic TXNIP deficiency is associated with a multisystemic metabolic disease.

Molecular metabolism·2026
Same author

Phenotype, Severity, and Therapy of Patients With LRP4 Antibody-Associated Myasthenia Gravis in the German Myasthenia Gravis Registry.

Neurology·2026
Same author

RNA Sequencing Indicates Distinct Platelet Transcriptomic Changes in Immune Thrombocytopenia.

Journal of thrombosis and haemostasis : JTH·2026
Same author

An externally validated machine learning algorithm for predicting mental and physical health outcomes three months post-hospitalization for severe viral infection with SARS-CoV-2.

Brain, behavior, & immunity - health·2026
Same author

Autoantibodies to IL-1Ra and PGRN in severe COVID-19 are associated with inflammation-induced hyperphosphorylated antigen isoforms.

Nature communications·2026
Same author

Value of functional iron parameters in diagnostic re-assessment of MPN: refinement of iron-deficiency markers by zinc protoporphyrin (ZPP).

Annals of hematology·2026

Related Experiment Video

Updated: Jun 10, 2026

Percutaneous Hepatic Perfusion PHP with Melphalan as a Treatment for Unresectable Metastases Confined to the Liver
09:02

Percutaneous Hepatic Perfusion PHP with Melphalan as a Treatment for Unresectable Metastases Confined to the Liver

Published on: July 31, 2016

11.9K

German Porphyria Registry (PoReGer)-Background and Setup.

Lea Gerischer1,2, Mona Mainert3, Nils Wohmann4

  • 1Department of Neurology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany.

Healthcare (Basel, Switzerland)
|January 11, 2024
PubMed
Summary

The German Porphyria Registry (PoReGer) collects crucial data to improve understanding and care for rare porphyria diseases. This registry enhances patient management, supports education, and aids in early porphyria detection.

Keywords:
acute porphyriasepidemiologyporphyriarare disease registry

More Related Videos

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

8.1K
TBase - an Integrated Electronic Health Record and Research Database for Kidney Transplant Recipients
09:00

TBase - an Integrated Electronic Health Record and Research Database for Kidney Transplant Recipients

Published on: April 13, 2021

4.5K

Related Experiment Videos

Last Updated: Jun 10, 2026

Percutaneous Hepatic Perfusion PHP with Melphalan as a Treatment for Unresectable Metastases Confined to the Liver
09:02

Percutaneous Hepatic Perfusion PHP with Melphalan as a Treatment for Unresectable Metastases Confined to the Liver

Published on: July 31, 2016

11.9K
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

8.1K
TBase - an Integrated Electronic Health Record and Research Database for Kidney Transplant Recipients
09:00

TBase - an Integrated Electronic Health Record and Research Database for Kidney Transplant Recipients

Published on: April 13, 2021

4.5K

Area of Science:

  • Rare Diseases
  • Clinical Data Management
  • Patient Registries

Background:

  • Porphyrias are rare diseases with complex challenges and limited knowledge.
  • A prospective national registry is essential for collecting longitudinal clinical and laboratory data.
  • The German Porphyria Registry (PoReGer) addresses this gap by consolidating expertise from leading centers and patient organizations.

Purpose of the Study:

  • To establish a comprehensive national registry for porphyria patients in Germany.
  • To collect detailed clinical, laboratory, and patient-reported data for various porphyria subgroups.
  • To deepen the understanding of porphyrias and improve patient management and care.

Main Methods:

  • The German Porphyria Registry (PoReGer) was founded by four expert centers and a reference laboratory.
  • A detailed data matrix was developed for acute, chronic blistering cutaneous, and acute non-blistering cutaneous porphyrias.
  • Data collected include demographics, symptoms, clinical course, medical history, follow-up assessments, therapies, side-effects, and patient-reported outcomes (quality of life, depression, fatigue).

Main Results:

  • The registry prospectively collects longitudinal data on porphyria patients.
  • Comprehensive data on disease manifestations, treatments, and patient-reported outcomes are being gathered.
  • The registry is supported by key stakeholders in the German porphyria community.

Conclusions:

  • The PoReGer registry is a vital tool for advancing knowledge and improving care for porphyria patients.
  • Collected data will enhance patient management, facilitate educational initiatives, and inform healthcare planning.
  • The registry data holds potential for machine learning applications in early porphyria detection.