Eduardo Laso-Lopez

Cordoba, AN, Spain

Last Updated: 09/26/2026

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Found 33 publications

Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.

Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.

Journal: Journal of inherited metabolic disease

Published: May 24, 2023

Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases.

Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases.

Journal: Molecular genetics and metabolism reports

Published: February 26, 2023

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

Journal: Genome medicine

Published: February 08, 2023

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.

Journal: Human molecular genetics

Published: March 14, 2022

First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.

First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.

Journal: Human mutation

Published: February 21, 2022

The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.

The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.

Journal: Clinical genetics

Published: December 20, 2021

Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency.

Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency.

Journal: Orphanet journal of rare diseases

Published: November 03, 2021

Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes.

Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes.

Journal: Parkinsonism & related disorders

Published: June 22, 2021

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

Journal: Journal of inherited metabolic disease

Published: May 21, 2021

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.

Journal: Nature communications

Published: December 09, 2020

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.

Journal: Journal of inherited metabolic disease

Published: October 30, 2020

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Journal: Orphanet journal of rare diseases

Published: August 08, 2020

Showing 1-12 of 33

Last Updated: 09/26/2026