Lista de obras -

Age-Related Deterioration of Mitochondrial Function in the Intestine

scientific article published on 18 August 2020

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

article

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

artículo científico publicado en 2017

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

artículo científico publicado en 2016

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

artículo científico publicado en 2018

Lithium and Not Acetoacetate Influences the Growth of Cells Treated with Lithium Acetoacetate

scientific article published on 25 June 2019

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

artículo científico publicado en 2021

No evidence for a shift in pyruvate kinase PKM1 to PKM2 expression during tumorigenesis

artículo científico publicado en 2011

Oxidative Phosphorylation System in Gastric Carcinomas and Gastritis

artículo científico publicado en 2017

Pyruvate kinase is a dosage-dependent regulator of cellular amino acid homeostasis

artículo científico publicado en 2012

Reduced Levels of ATP Synthase Subunit ATP5F1A Correlate with Earlier-Onset Prostate Cancer

artículo científico publicado en 2018

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

artículo científico publicado en 2016

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

artículo científico publicado en 2014

Spectrum of combined respiratory chain defects

artículo científico publicado en 2015

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 ⬇️

scientific journal article

Targeting L-Lactate Metabolism to Overcome Resistance to Immune Therapy of Melanoma and Other Tumor Entities

scientific article published on 03 November 2019

Targeting Mitochondria in Melanoma

scientific article published on 30 September 2020

The switch in the diagnosis of mitochondrial diseases from the classical 'function first' to the NGS-based 'genetics first' diagnostic era

artículo científico publicado en 2020

Untargeted Metabolomics Reveals Molecular Effects of Ketogenic Diet on Healthy and Tumor Xenograft Mouse Models

scientific article published on 08 August 2019

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases

scientific article published on 08 July 2019

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