Javier De Las Heras

Barakaldo, PV 48093, Spain

Last Updated: 09/26/2026

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Found 37 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

Executive summary of the consensus document on management of the transition of patients with inborn errors of intermediary metabolism.

Executive summary of the consensus document on management of the transition of patients with inborn errors of intermediary metabolism.

Journal: Revista clinica espanola

Published: November 19, 2025

Best Practices for the Nutritional Management of Infantile-Onset Lysosomal Acid Lipase Deficiency: A Case-Based Discussion.

Best Practices for the Nutritional Management of Infantile-Onset Lysosomal Acid Lipase Deficiency: A Case-Based Discussion.

Journal: Nutrients

Published: October 17, 2025

Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.

Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.

Journal: Orphanet journal of rare diseases

Published: August 06, 2025

Heterogeneous nature of severe hypertriglyceridemia in childhood.

Heterogeneous nature of severe hypertriglyceridemia in childhood.

Journal: Journal of clinical lipidology

Published: July 24, 2025

Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.

Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.

Journal: Nutrients

Published: March 06, 2025

Investigating the therapeutic profile of velaglucerase alfa in paediatric patients with Gaucher disease: a systematic review across all paediatric age groups.

Investigating the therapeutic profile of velaglucerase alfa in paediatric patients with Gaucher disease: a systematic review across all paediatric age groups.

Journal: Orphanet journal of rare diseases

Published: February 26, 2025

Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications.

Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 08, 2024

Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.

Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.

Journal: Nutrients

Published: October 16, 2024

Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease.

Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease.

Journal: Neurologia

Published: October 09, 2024

Successful desensitization protocol to alglucosidase and avalglucosidase alfa in a patient with infantile-onset Pompe disease.

Successful desensitization protocol to alglucosidase and avalglucosidase alfa in a patient with infantile-onset Pompe disease.

Journal: Molecular genetics and metabolism reports

Published: October 05, 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

Showing 1-12 of 37

Last Updated: 09/26/2026