The variability conundrum in neurometabolic degenerative diseases
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Each is checked against this paper’s own text: does it say what the citing paper says it does?
ALD has no established genotype-phenotype relationship.
“The disease is characterized by a striking clinical spectrum and is unpredictable in disease course and severity, with no established genotype–phenotype relationship [8,9].”
From Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy (2022) · cites this paper as [8]
Cites
Adrenoleukodystrophy—Neuroendocrine pathogenesis and redefinition of natural history
Kemp, S., Huffnagel, I. C., Linthorst, G. E., Wanders, R. J., & Engelen, M. (2016) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2016.90 · Cited by 275 · see citing works
Self-citation
Flagged first, then by citations
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Mallack, E. J., Gao, K., Engelen, M., & Kemp, S. (2022) · Cells · doi:10.3390/cells11020283 · Cited by 60 · see citing works
“Before the age of 10 years, one out of two boys diagnosed with ALD will develop adrenal insufficiency and one out of three boys will develop cerebral ALD [8,10].”
BackgroundSelf-citation
- Authors
- van Karnebeek, C. D. M., Richmond, P. A., van der Kloet, F., Wasserman, W. W., Engelen, M., & Kemp, S.
- Affiliations
- University of British Columbia (CA)
- Emma Kinderziekenhuis (NL)
- Venue
- Molecular Genetics and Metabolism
- Publisher
- Elsevier BV
- Published
- 2020-12
- Volume
- 131
- Issue
- 4
- Pages
- 367-369
- ISSN
- 1096-7192 (ISSN-L)
- OpenAlex
- W3097464242
- Cited by
- 4
- References
- 1
- Citations by year
- 2026: 1 · 2023: 1 · 2022: 2
- FWCI
- 0.50
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Molecular Genetics and Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Funders
- ZonMw
- Stichting Metakids
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- neurometabolic disorders, degenerative diseases, disease variability, phenotypic heterogeneity, genotype-phenotype correlation
- MeSH terms
- Humans, Infant, Newborn, Metabolic Diseases, Neonatal Screening, Age of Onset, Neurodegenerative Diseases
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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