ReviewDevelopmental disabilities research reviews2013
Newborn screening for lysosomal storage disorders and other neuronopathic conditions.
Review in Developmental disabilities research reviews, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 40 citations in OpenAlex.
- Global Incidence and Prevalence of Gaucher Disease: A Targeted Literature Review.Journal of clinical medicine · 2022Review
- A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.International journal of neonatal screening · 2020Article
- Case reports of metabolic disorders from Nepal.Molecular genetics and metabolism reports · 2019Article
- Effect of temperature on lysosomal enzyme activity during preparation and storage of dried blood spots.Journal of clinical laboratory analysis · 2018Article
- Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia.Cell reports · 2017Article
- Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives.Advanced drug delivery reviews · 2017Review
- Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers.Journal of genetic counseling · 2016Article
- Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis.Brain : a journal of neurology · 2015Review
- Newborn screening for lysosomal storage diseases.Clinical chemistry · 2015Review
- The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.The application of clinical genetics · 2015Review
- Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases.North American journal of medicine & scienceArticle
- Pilot study of newborn screening for six lysosomal diseases in Brazil.Molecular genetics and metabolismArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Newborn screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity, and disabilities. Currently, every newborn in the Unites States is screened for at least 29 conditions where evidence suggests that early detection is possible and beneficial. With new or improved treatment options and development of high-throughput screening tests, additional conditions have been proposed for inclusion into NBS programs. Among those are several conditions with a strong neuronopathic component. Some of these conditions have already been added to a few national and international screening programs, whereas others are undergoing pilot studies to determine the test performance metrics. Here, we review the current state of NBS for 13 lysosomal storage disorders, X-adrenoleukodystrophy, Wilson disease, and Friedreich ataxia.
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.