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[Type I Hyperprolinemia - What about the Kidney?]

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia - 22 Dec 2023

Rizzo Manuela, Amicone Maria, Sellitti Maria Luigia, Marino Antonella, Sannino Anna, Capuano Ivana, Pisani Antonio

Abstract excerpt

Hyperprolinemia is a rare genetic condition due to mutations in proline metabolic pathway. Type I Hyperprolinemia (HPI) typically causes neuropsychiatric disorders, and diagnosis is usually confirmed in pediatric population with suggestive neuropsychiatric involvement by elevated serum proline levels and elevated urinary proline, hydroxyproline, and glycine levels. The possible coexistence of nephropathy in...

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PMID: 38156540

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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