The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Urea cycle defects: Management and outcome
Abstract
Summary: This paper reviews the clinical presentation of 217 patients with urea cycle defects, including 121 patients with neonatal‐onset forms and 96 patients with late‐onset forms. Long‐term outcome of these patients is also reported with the severity of the neonatal forms of these disorders, mostly for ornithine carbamoyltransferase‐deficient males. Patients with late‐onset forms may present at any age and carry a 28% mortality rate and a subsequent risk of subsequent disabilities.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Isolated Hepatocyte Transplantation in an Infant With a Severe Urea Cycle Disorder
Horslen, S. P., McCowan, T. C., Goertzen, T. C., Warkentin, P. I., Cai, H. B., Strom, S. C., & Fox, I. J. (2003) · Pediatrics · doi:10.1542/peds.111.6.1262 · Cited by 295
Natural history of symptomatic partial ornithine transcarbamylase deficiency
Rowe, P. C., Newman, S. L., & Brusilow, S. W. (1986) · New England Journal of Medicine · doi:10.1056/nejm198602273140903 · Cited by 135
Cited by
Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders
Enns, G. M., Berry, S. A., Berry, G. T., Rhead, W. J., Brusilow, S. W., & Hamosh, A. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa066596 · Cited by 355
Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency
Martínez, A. I., Pérez-Arellano, I., Pekkala, S., Barcelona, B., & Cervera, J. (2010) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2010.08.002 · Cited by 67
Metadata
- Authors
- Nassogne, M. C., Héron, B., Touati, G., Rabier, D., & Saudubray, J. M.
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 2005-05
- Volume
- 28
- Issue
- 3
- Pages
- 407-414
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W2096854288
- Cited by
- 184
- References
- 2
- FWCI
- 4.67
- Type
- journal article
- Language
- en
- Open access
- closed
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.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Urea cycle defects: Management and outcome. https://app.cochat.ai/papers/10.1007/s10545-005-0303-7
- The paper
- Nassogne, M. C., Héron, B., Touati, G., Rabier, D., & Saudubray, J. M. (2005). Urea cycle defects: Management and outcome. Journal of Inherited Metabolic Disease. https://doi.org/10.1007/s10545-005-0303-7
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
