ReviewJournal of human genetics2019
Overview of symptoms and treatment for lysinuric protein intolerance.
Review in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- From metabolic disorder to autoimmunity: lupus-like immune dysregulation in children with SLC7A7-associated lysinuric protein intolerance.BMC pediatrics · 2026Review
- Failure to thrive in children with tubulopathies.Pediatric nephrology (Berlin, Germany) · 2026Review
- Pregnancy in Lysinuric Protein Intolerance Complicated by Immune Dysregulation and Severe Thrombocytopenia.JIMD reports · 2026Article
- Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies.Journal of clinical medicine · 2025Review
- Lysinuric protein intolerance: Unusual clinical manifestations in a compound heterozygote with a novel pathogenic variant.Biochemistry and biophysics reports · 2025Article
- Lysine: Sources, Metabolism, Physiological Importance, and Use as a Supplement.International journal of molecular sciences · 2025Review
- Lysinuric protein intolerance associated Hemophagocytic Lymphohistiocytosis revealed by bone marrow atypical hemophagocytosis.La Tunisie medicale · 2025Article
- Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis.Molecular medicine (Cambridge, Mass.) · 2025Article
- Membranoproliferative glomerulonephritis in a patient with lysinuric protein intolerance: lesson for the clinical nephrologist.Journal of nephrology · 2025Article
- The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance.Indian journal of pediatrics · 2025Article
- Outcomes of kidney transplantation in patients with lysinuric protein intolerance.Clinical kidney journal · 2025Article
- Quo vadis ureagenesis disorders? A journey from 90 years ago into the future.Journal of inherited metabolic disease · 2024Review
- Whole lung lavage and GM-CSF use for pulmonary alveolar proteinosis in an infant with lysinuric protein intolerance: a case report.Italian journal of pediatrics · 2024Article
- Lysinuric protein intolerance with novel mutations in solute carrier family 7A member 7 in a Chinese family.Pediatric investigation · 2024Article
- Genetic changes in theFrontiers in endocrinology · 2024Article
- [Enteral nutrition support for lysinuric protein intolerance: a case report and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Review
- Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.Disease models & mechanisms · 2023Article
- Genetics of SLE: mechanistic insights from monogenic disease and disease-associated variants.Nature reviews. Nephrology · 2023Review
- Lysinuric protein intolerance presenting as pancytopenia and splenomegaly mimicking acute leukaemia: a case report.BMC pediatrics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysinuric protein intolerance (LPI) is caused by dysfunction of the dibasic amino acid membrane transport owing to the functional abnormality of y
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.