Paracetamol toxicity in classic homocystinuria: Effect of N‐acetylcysteine on total homocysteine
Abstract Classical homocystinuria (HCU) is caused by cystathionine β‐synthase deficiency leading to impaired homocysteine transsulfuration and accumulation of homocysteine and methionine. Patients present with a wide spectrum of manifestations including ocular, skeletal, neuropsychiatric, and vascul...
Main Authors: | Nour Elkhateeb, Sarah Hyde, Sarah L. Hogg, Daniel Allsop, Arun Shankar, Patrick Deegan, Chong Y. Tan |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2023-05-01
|
Series: | JIMD Reports |
Subjects: | |
Online Access: | https://doi.org/10.1002/jmd2.12363 |
Similar Items
-
Estimating prevalence of classical homocystinuria in the United States using Optum's de-identified market clarity data
by: Mahim Jain, et al.
Published: (2024-09-01) -
High clinical burden of classical homocystinuria in the United States: a retrospective analysis
by: Mahim Jain, et al.
Published: (2025-01-01) -
“My dream is to not have to be on a diet”: a qualitative study on burdens of classical homocystinuria (HCU) from the patient perspective
by: Robin Pokrzywinski, et al.
Published: (2025-03-01) -
Mechanism of action and impact of thiol homeostasis on efficacy of an enzyme replacement therapy for classical homocystinuria
by: Thilo Magnus Philipp, et al.
Published: (2024-11-01) -
Hypermethioninemia Leads to Fatal Bleeding and Increased Mortality in a Transgenic I278T Mouse Model of Homocystinuria
by: Insun Park, et al.
Published: (2020-07-01)