Miguel Heredia-De

Madrid, MD 28029, Spain

Last Updated: 09/26/2026

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Found 13 publications

Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients.

Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients.

Journal: Biomedicines
Published: December 13, 2024

Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study.

Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study.

Journal: International journal of molecular sciences
Published: October 31, 2023

The antioxidant l-Ergothioneine prevents cystine lithiasis in the Slc7a9-/- mouse model of cystinuria.

The antioxidant l-Ergothioneine prevents cystine lithiasis in the Slc7a9-/- mouse model of cystinuria.

Journal: Redox biology
Published: May 31, 2023

Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.

Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.

Journal: Frontiers in genetics
Published: April 03, 2023

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness.

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness.

Journal: Frontiers in genetics
Published: July 20, 2022

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2.

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2.

Journal: Communications biology
Published: February 18, 2022

Novel genes and sex differences in COVID-19 severity.

Novel genes and sex differences in COVID-19 severity.

Journal: Human molecular genetics
Published: February 15, 2022

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

Journal: Clinical genetics
Published: November 26, 2021

S-Methyl-L-Ergothioneine to L-Ergothioneine Ratio in Urine Is a Marker of Cystine Lithiasis in a Cystinuria Mouse Model.

S-Methyl-L-Ergothioneine to L-Ergothioneine Ratio in Urine Is a Marker of Cystine Lithiasis in a Cystinuria Mouse Model.

Journal: Antioxidants (Basel, Switzerland)
Published: July 28, 2021

Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids.

Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids.

Journal: Journal of the American Society of Nephrology : JASN
Published: November 21, 2017

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Journal: Human mutation
Published: October 14, 2016

Digenic Inheritance in Cystinuria Mouse Model.

Digenic Inheritance in Cystinuria Mouse Model.

Journal: PloS one
Published: April 14, 2015
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Last Updated: 09/26/2026