ReviewCells2022
Newborn Screening: Review of its Impact for Cystinosis.
Review in Cells, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06027385 (Scientific Basis for a Newborn Screening for Cystinosis and Spinal Muscular Atrophy), which is not on this map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Scientific Basis for a Newborn Screening for Cystinosis and Spinal Muscular Atrophy
Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Diagnosis and management of cystinosis: systematic review for a clinical practice guideline.Orphanet journal of rare diseases · 2025Pooled it
- Urinary YKL-40 as a diagnostic biomarker for cystinosis.JCI insight · 2026Article
- Review
- Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia.BMC genomic data · 2026Article
- Article
- Adherence to delayed-release cysteamine in nephropathic cystinosis over time: data from the prospective CrYSTobs cohort study.Pediatric nephrology (Berlin, Germany) · 2025Article
- Article
- Extrarenal complications of cystinosis.Pediatric nephrology (Berlin, Germany) · 2024Review
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Worldwide disparities in access to treatment and investigations for nephropathic cystinosis: a 2023 perspective.Pediatric nephrology (Berlin, Germany) · 2024Article
- Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification.Frontiers in genetics · 2024Article
- [Development of analytics in newborn screening-from the Guthrie card to genetics].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 6 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 at an early stage using appropriate diagnostics, the introduction of a new target disease requires a detailed analysis of the entire screening process, including a robust scientific background, analytics, information technology, and logistics. In addition, ethics, financing, and the required medical measures need to be considered to allow the benefits of screening to be evaluated at a higher level than its potential harm. Infantile nephropathic cystinosis (INC) is a very rare lysosomal metabolic disorder. With the introduction of cysteamine therapy in the early 1980s and the possibility of renal replacement therapy in infancy, patients with cystinosis can now reach adulthood. Early diagnosis of cystinosis remains important as this enables initiation of cysteamine at the earliest opportunity to support renal and patient survival. Using molecular technologies, the feasibility of screening for cystinosis has been demonstrated in a pilot project. This review aims to provide insight into NBS and discuss its importance for nephropathic cystinosis using molecular technologies.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.