Patricia Correcher

Valencia, VC 46026, Spain

Last Updated: 09/26/2026

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Found 16 publications

Dietary Patterns in a Nationwide Cohort of Patients with Hereditary Fructose Intolerance.

Dietary Patterns in a Nationwide Cohort of Patients with Hereditary Fructose Intolerance.

Journal: Nutrients

Published: January 16, 2026

Lipidomics uncovers metabolic manifestations related to liver steatosis and low-grade systemic inflammation in diet-treated hereditary fructose intolerance patients.

Lipidomics uncovers metabolic manifestations related to liver steatosis and low-grade systemic inflammation in diet-treated hereditary fructose intolerance patients.

Journal: Clinical nutrition (Edinburgh, Scotland)

Published: October 16, 2025

Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling.

Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling.

Journal: European journal of human genetics : EJHG

Published: July 16, 2025

The impact of interstitial lung disease in patients with acid sphingomyelinase deficiency (ASMD) - A case series.

The impact of interstitial lung disease in patients with acid sphingomyelinase deficiency (ASMD) - A case series.

Journal: Respiratory medicine case reports

Published: December 10, 2024

Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.

Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.

Journal: Journal of inherited metabolic disease

Published: May 28, 2024

Correction: Vitamin C and folate status in hereditary fructose intolerance.

Correction: Vitamin C and folate status in hereditary fructose intolerance.

Journal: European journal of clinical nutrition

Published: September 06, 2023

Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia.

Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia.

Journal: Nutrients

Published: January 09, 2023

Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.

Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.

Journal: International journal of molecular sciences

Published: September 15, 2022

Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.

Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.

Journal: Journal of clinical medicine

Published: July 19, 2022

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.

Journal: Journal of clinical medicine

Published: March 21, 2022

Vitamin C and folate status in hereditary fructose intolerance.

Vitamin C and folate status in hereditary fructose intolerance.

Journal: European journal of clinical nutrition

Published: March 09, 2022

Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance.

Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance.

Journal: Journal of clinical medicine

Published: May 21, 2021

Showing 1-12 of 16

Last Updated: 09/26/2026