ArticleMolecular genetics and metabolism reports2014
Lysinuric Protein Intolerance Presenting with Multiple Fractures.
Article in Molecular genetics and metabolism reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed, 25 citations in OpenAlex.
- The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance.Indian journal of pediatrics · 2025Article
- Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman.JIMD reports · 2023Article
- Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance.Disease models & mechanisms · 2023Article
- Children with lysinuric protein intolerance: Experience from a lower middle income country.World journal of clinical pediatrics · 2022Article
- Lysinuric protein intolerance mimickingMolecular genetics and metabolism reports · 2021Article
- Review
- Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.Frontiers in pediatrics · 2021Article
- A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance.Human molecular genetics · 2020Article
- Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases.The application of clinical genetics · 2020Article
- Amino Acid Transport Defects in Human Inherited Metabolic Disorders.International journal of molecular sciences · 2019Review
- Overview of symptoms and treatment for lysinuric protein intolerance.Journal of human genetics · 2019Review
- Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.Genome medicine · 2019Article
- Bone health in patients with inborn errors of metabolism.Reviews in endocrine & metabolic disorders · 2018Review
- A nine-month-old-boy with Atypical Hemophagocytic Lymphohistiocytosis.Mediterranean journal of hematology and infectious diseases · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
Lysinuric protein intolerance (LPI) is a rare autosomal recessive inborn error of metabolism caused by mutations in
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.