Jorge Cayuela-Asin

Goeteborg, O 41345, Sweden

Last Updated: 09/26/2026

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Found 13 publications

Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015-2023.

Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015-2023.

Journal: International journal of neonatal screening

Published: July 22, 2025

Hemorrhagic colitis induced by trientine in a 51-year-old patient with Wilson's disease waiting for liver transplantation: A case report.

Hemorrhagic colitis induced by trientine in a 51-year-old patient with Wilson's disease waiting for liver transplantation: A case report.

Journal: World journal of hepatology

Published: March 03, 2022

Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.

Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.

Journal: EMBO molecular medicine

Published: September 01, 2020

β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA.

β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA.

Journal: Cold Spring Harbor molecular case studies

Published: January 11, 2019

γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1.

γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1.

Journal: European journal of human genetics : EJHG

Published: September 15, 2017

Deficiency in perilipin 5 reduces mitochondrial function and membrane depolarization in mouse hearts.

Deficiency in perilipin 5 reduces mitochondrial function and membrane depolarization in mouse hearts.

Journal: The international journal of biochemistry & cell biology

Published: March 24, 2017

Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.

Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.

Journal: Journal of medical case reports

Published: November 09, 2016

Perilipin 5 is protective in the ischemic heart.

Perilipin 5 is protective in the ischemic heart.

Journal: International journal of cardiology

Published: April 18, 2016

A novel mutation on the transferrin gene abolishes one N-glycosylation site and alters the pattern of transferrin isoforms, mimicking that observed after excessive alcohol consumption.

A novel mutation on the transferrin gene abolishes one N-glycosylation site and alters the pattern of transferrin isoforms, mimicking that observed after excessive alcohol consumption.

Journal: Clinical biochemistry

Published: October 26, 2015

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.

Journal: Frontiers in genetics

Published: November 28, 2014

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.

Journal: Journal of inherited metabolic disease

Published: October 31, 2014

Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.

Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.

Journal: Mitochondrion

Published: September 25, 2014

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Last Updated: 09/26/2026