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Last Updated: 10/31/2025

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Found 242 publications

Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism.

Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism.

Journal: Molecular genetics and metabolism reports
Published: August 19, 2025

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19.

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19.

Journal: American journal of medical genetics. Part A
Published: April 25, 2025

A Case of Prolidase Deficiency With Long-Term Clinical Follow-Up.

A Case of Prolidase Deficiency With Long-Term Clinical Follow-Up.

Journal: The Journal of dermatology
Published: April 21, 2025

Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.

Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.

Journal: Turkish archives of pediatrics
Published: January 13, 2025

Beyond proline shortage: New insights into the pathophysiology of prolidase deficiency.

Beyond proline shortage: New insights into the pathophysiology of prolidase deficiency.

Journal: Molecular genetics and metabolism
Published: December 30, 2024

Interstitial Lung Disease in a Girl with Prolidase Deficiency.

Interstitial Lung Disease in a Girl with Prolidase Deficiency.

Journal: Journal of clinical immunology
Published: August 13, 2024

Multiorgan Failure and Sepsis in an ICU Patient with Prolidase Enzyme Deficiency-The Specificity of Treatment and Care: A Case Report.

Multiorgan Failure and Sepsis in an ICU Patient with Prolidase Enzyme Deficiency-The Specificity of Treatment and Care: A Case Report.

Journal: Medicina (Kaunas, Lithuania)
Published: May 09, 2024

Targeting prolidase. A survey of the literature data to depict a structure-activity relationship frame and to address future studies for drug development.

Targeting prolidase. A survey of the literature data to depict a structure-activity relationship frame and to address future studies for drug development.

Journal: Bioorganic & medicinal chemistry
Published: April 17, 2024

A rare cause of immune dysregulation, prolidase deficiency: a case report and review of the literature.

A rare cause of immune dysregulation, prolidase deficiency: a case report and review of the literature.

Journal: Immunologic research
Published: March 26, 2024

Prolidase Deficiency Presenting With Pulmonary Arteriovenous Malformations and Seizures: Report of Two Cases From Iran.

Prolidase Deficiency Presenting With Pulmonary Arteriovenous Malformations and Seizures: Report of Two Cases From Iran.

Journal: Case reports in pediatrics
Published: March 21, 2024

Cluster Case of Prolidase Deficiency: Varied Clinical Presentations and Management in a Sibling Trio.

Cluster Case of Prolidase Deficiency: Varied Clinical Presentations and Management in a Sibling Trio.

Journal: Cureus
Published: December 17, 2023

Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant.

Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant.

Journal: Molecular syndromology
Published: November 30, 2023
Showing 1-12 of 242

Last Updated: 10/31/2025