Marcello Bellusci

Madrid, MD 28041, Spain

Last Updated: 09/26/2026

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Found 32 publications

Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.

Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.

Journal: International journal of neonatal screening

Published: February 02, 2026

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

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

Journal: European journal of neurology

Published: January 10, 2026

Impact of compound heterozygous SDHA variants on mitochondrial function in pediatric with neurological disease.

Impact of compound heterozygous SDHA variants on mitochondrial function in pediatric with neurological disease.

Journal: Mitochondrion

Published: November 21, 2025

Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry.

Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry.

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

Published: October 31, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 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

Childhood to adult transition in youth patients with lysosomal acid lipase deficiency: 43 recommendations from experts.

Childhood to adult transition in youth patients with lysosomal acid lipase deficiency: 43 recommendations from experts.

Journal: Orphanet journal of rare diseases

Published: October 17, 2024

Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.

Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.

Journal: Journal of inherited metabolic disease

Published: July 12, 2024

Ecological study to estimate the prevalence of patients with acid sphingomyelinase deficiency in Spain. PREVASMD study.

Ecological study to estimate the prevalence of patients with acid sphingomyelinase deficiency in Spain. PREVASMD study.

Journal: Revista clinica espanola

Published: May 13, 2024

Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.

Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.

Journal: European journal of neurology

Published: October 31, 2023

Showing 1-12 of 32

Last Updated: 09/26/2026