Newborn Screening: Review of its Impact for Cystinosis
Newborn screening (NBS) programmes are considered to be one of the most successful secondary prevention measures in childhood to prevent or reduce morbidity and/or mortality via early disease identification and subsequent initiation of therapy. However, while many rare diseases can now be detected a...
Main Authors: | Katharina Hohenfellner, Ewa Elenberg, Gema Ariceta, Galina Nesterova, Neveen A. Soliman, Rezan Topaloglu |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2022-03-01
|
Series: | Cells |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4409/11/7/1109 |
Similar Items
-
Unveiling cystinosis in India
by: Aniruddh Heroor, et al.
Published: (2024-06-01) -
Ophthalmic Evaluation of Diagnosed Cases of Eye Cystinosis: A Tertiary Care Center’s Experience
by: Malgorzata Kowalczyk, et al.
Published: (2020-11-01) -
Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey
by: Neslihan Önenli-Mungan, et al.
Published: (2016-08-01) -
Ocular Involvement in Patients with Infantile Nephropathic Cystinosis
by: Sema Üzüm, et al.
Published: (2024-08-01) -
Quality of life and mental health status in caregivers of pediatric patients with nephropathic cystinosis
by: Karina González, et al.
Published: (2024-11-01)