Pilar Pombo-Rodriguez

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 35 publications

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

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

Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient.

Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient.

Journal: International journal of molecular sciences

Published: January 25, 2024

Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome.

Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome.

Journal: Journal of translational medicine

Published: July 13, 2023

An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis.

An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis.

Journal: Nature metabolism

Published: April 20, 2023

Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy.

Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy.

Journal: Journal of inherited metabolic disease

Published: September 20, 2022

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

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

Journal: Human molecular genetics

Published: July 24, 2022

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.

Journal: Brain : a journal of neurology

Published: July 15, 2022

Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature.

Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature.

Journal: Orphanet journal of rare diseases

Published: March 03, 2022

Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning.

Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: October 19, 2021

Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.

Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.

Journal: Journal of clinical medicine

Published: October 08, 2019

Showing 1-12 of 35

Last Updated: 09/26/2026