Irene Picot-Ceballos

Paris, France

Last Updated: 09/26/2026

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Found 25 publications

Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency.

Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency.

Journal: Journal of inherited metabolic disease

Published: July 08, 2025

Metabolic and neurobehavioral disturbances induced by purine recycling deficiency in Drosophila.

Metabolic and neurobehavioral disturbances induced by purine recycling deficiency in Drosophila.

Journal: eLife

Published: May 03, 2024

The Case | A man with acute bilateral urolithiasis.

The Case | A man with acute bilateral urolithiasis.

Journal: Kidney international

Published: October 07, 2020

Induced pluripotent stem cells from subjects with Lesch-Nyhan disease.

Induced pluripotent stem cells from subjects with Lesch-Nyhan disease.

Journal: Scientific reports

Published: July 31, 2020

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

Journal: European journal of medical genetics

Published: April 14, 2020

Structural basis for substrate selectivity and nucleophilic substitution mechanisms in human adenine phosphoribosyltransferase catalyzed reaction.

Structural basis for substrate selectivity and nucleophilic substitution mechanisms in human adenine phosphoribosyltransferase catalyzed reaction.

Journal: The Journal of biological chemistry

Published: May 02, 2019

Adenine Phosphoribosyltransferase Deficiency Due to Novel Mutation.

Adenine Phosphoribosyltransferase Deficiency Due to Novel Mutation.

Journal: Kidney international reports

Published: April 18, 2019

Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.

Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.

Journal: Molecular genetics and metabolism

Published: February 08, 2019

Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report .

Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report .

Journal: Clinical nephrology

Published: August 15, 2018

A pan-cancer study of the transcriptional regulation of uricogenesis in human tumours: pathological and pharmacological correlates.

A pan-cancer study of the transcriptional regulation of uricogenesis in human tumours: pathological and pharmacological correlates.

Journal: Bioscience reports

Published: December 22, 2017

Structural Insights into the Forward and Reverse Enzymatic Reactions in Human Adenine Phosphoribosyltransferase.

Structural Insights into the Forward and Reverse Enzymatic Reactions in Human Adenine Phosphoribosyltransferase.

Journal: Cell chemical biology

Published: June 01, 2017

A comprehensive characterization of the impact of mycophenolic acid on the metabolism of Jurkat T cells.

A comprehensive characterization of the impact of mycophenolic acid on the metabolism of Jurkat T cells.

Journal: Scientific reports

Published: April 13, 2017

Showing 1-12 of 25

Last Updated: 09/26/2026