ReviewBiology2020
Clinical Genetics of Prolidase Deficiency: An Updated Review.
Review in Biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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
23 citing papers in PubMed, 52 citations in OpenAlex.
- Prolidase Deficiency Mimicking Primary Immunodeficiency in a Toddler with Recurrent Infections.Indian journal of pediatrics · 2026Article
- Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism.Molecular genetics and metabolism reports · 2025Article
- Porto-sinusoidal vascular disorder in a pediatric patient with prolidase deficiency: A case report.JPGN reports · 2025Article
- Interstitial Lung Disease in a Girl with Prolidase Deficiency.Journal of clinical immunology · 2025Article
- Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.Turkish archives of pediatrics · 2025Article
- Prolidase Deficiency Presenting With Pulmonary Arteriovenous Malformations and Seizures: Report of Two Cases From Iran.Case reports in pediatrics · 2025Article
- Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant.Molecular syndromology · 2024Article
- Multiorgan Failure and Sepsis in an ICU Patient with Prolidase Enzyme Deficiency-The Specificity of Treatment and Care: A Case Report.Medicina (Kaunas, Lithuania) · 2024Observational
- Infections in Disorders of Immune Regulation.Pathogens (Basel, Switzerland) · 2024Review
- Rituximab to treat prolidase deficiency due to a novel pathogenic copy number variation inRMD open · 2023Article
- Consequences of Disturbing Manganese Homeostasis.International journal of molecular sciences · 2023Review
- [Holocarboxylase synthetase deficiency induced byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management.Diagnostics (Basel, Switzerland) · 2022Review
- PEPD-Related Prolidase Deficiency Presenting as Hyper-immunoglobulin E Syndrome.Journal of clinical immunology · 2022Article
- Review
- Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2022Article
- Prolidase deficiency in an infant with an incidental finding of methaemoglobinaemia.BMJ case reports · 2021Article
- Osteoarticular Manifestations of Prolidase Deficiency and Disability: Case Reports of Two Moroccan Sisters.Cureus · 2021Article
- Prolidase Deficiency in Very Early Onset Inflammatory Bowel Disease (VEO-IBD).Indian journal of pediatrics · 2021Article
- PROLIDASE: A Review from Discovery to its Role in Health and Disease.Frontiers in molecular biosciences · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Prolidase is a ubiquitous enzyme that plays a major role in the metabolism of proline-rich proteins. Prolidase deficiency is a rare autosomal recessive inborn metabolic and multisystemic disease, characterized by a protean association of symptoms, namely intellectual disability, recurrent infections, splenomegaly, skin lesions, auto-immune disorders and cytopenia. To our knowledge, no published review has assembled the different clinical data and research studies over prolidase deficiency. The aim of this study is to summarize the actual state of the art from the descriptions of all the patients with a molecular diagnosis of prolidase deficiency reported to date regarding the clinical, biological, histopathological features, therapeutic options and functional studies.
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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.