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Active droplets through enzyme-free, dynamic phosphorylation

Nature communications, 2024-05, Vol.15 (1), p.4204-4204, Article 4204

2024

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Modulation of peroxisomal import by the PEX13 SH3 domain and a proximal FxxxF binding motif

Nature communications, 2024-04, Vol.15 (1), p.3317-3317, Article 3317

2024

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Effects of fullerene on lipid bilayers displaying different liquid ordering: a coarse-grained molecular dynamics study

Biochimica et biophysica acta. General subjects, 2017-11, Vol.1861 (11), p.2872-2882

2017

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Fuel‐Driven Dynamic Combinatorial Peptide Libraries

Angewandte Chemie International Edition, 2024-07, p.e202407424

2024

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Fuel‐Driven Dynamic Combinatorial Peptide Libraries

Angewandte Chemie, 2024-07

2024

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Expanding cross-presenting dendritic cells enhances oncolytic virotherapy and is critical for long-term anti-tumor immunity

Nature communications, 2022-11, Vol.13 (1), p.7149-18, Article 7149

2022

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Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Orphanet journal of rare diseases, 2021-04, Vol.16 (1), p.1-195, Article 195

2021

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Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

Human molecular genetics, 2014-04, Vol.23 (7), p.1907-1915

2014

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Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.188-188, Article 188

2023

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Mir34a constrains pancreatic carcinogenesis

Scientific reports, 2020-06, Vol.10 (1), p.9654, Article 9654

2020

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A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

American journal of human genetics, 2011-11, Vol.89 (5), p.656-667

2011

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Increasing intratumoral dendritic cells to potentiate anti-tumor effects of Newcastle disease virus-based immunotherapy

The Journal of immunology (1950), 2019-05, Vol.202 (1_Supplement), p.136-136.4

2019

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Results of a multidisciplinary strategy to improve the management of cardiovascular risk factors after liver transplantation

Liver transplantation, 2022-08, Vol.28 (8), p.1332-1344

2022

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CACS, CCTA and mCAD‐LT score in the pre‐transplant assessment of coronary artery disease and the prediction of post‐transplant cardiovascular events

Liver international, 2024-08, Vol.44 (8), p.1912-1923

2024

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Implementation of second-tier tests in newborn screening for the detection of vitamin B 12 related acquired and genetic disorders: results on 258,637 newborns

Orphanet journal of rare diseases, 2021-04, Vol.16 (1), p.195

2021

Volltextzugriff (PDF)

Phytoplankton and suitability of derived metrics for assessing the ecological status in a limno-reservoir, a Water Framework Directive nondefined type of Mediterranean waterbody

Lake and reservoir management, 2014-01, Vol.30 (1), p.46-62

2014

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A new fatal case of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency

Molecular genetics and metabolism, 2008-02, Vol.93 (2), p.216-218

2008

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COVID-19 Vaccine Effectiveness in Autumn and Winter 2022 to 2023 Among Older Europeans

JAMA network open, 2024-07, Vol.7 (7), p.e2419258

2024

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Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.409-415

2012

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Screening for congenital disorders of glycosylation (CDG): Transferrin HPLC versus isoelectric focusing (IEF)

Clinical biochemistry, 2009-03, Vol.42 (4), p.408-415

2009

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Loss of Wasl improves pancreatic cancer outcome

JCI insight, 2020-05, Vol.5 (10)

2020

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Erratum to “Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis”[Clin. Biochem. 42 (2009) 27–33]

Clinical biochemistry, 2016-01, Vol.49 (1-2), p.197-197

2016

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Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis

Clinical biochemistry, 2009, Vol.42 (1), p.27-33

2009

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X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency

European journal of human genetics : EJHG, 2010-12, Vol.18 (12), p.1353-1355

2010

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50 años del programa de cribado neonatal en Cataluña

Revista española de salud pública, 2020 (94)

2020

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Active droplets through enzyme-free, dynamic phosphorylation

Modulation of peroxisomal import by the PEX13 SH3 domain and a proximal FxxxF binding motif

Effects of fullerene on lipid bilayers displaying different liquid ordering: a coarse-grained molecular dynamics study

Fuel‐Driven Dynamic Combinatorial Peptide Libraries

Fuel‐Driven Dynamic Combinatorial Peptide Libraries

Expanding cross-presenting dendritic cells enhances oncolytic virotherapy and is critical for long-term anti-tumor immunity

Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Mir34a constrains pancreatic carcinogenesis

A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

Increasing intratumoral dendritic cells to potentiate anti-tumor effects of Newcastle disease virus-based immunotherapy

Results of a multidisciplinary strategy to improve the management of cardiovascular risk factors after liver transplantation

CACS, CCTA and mCAD‐LT score in the pre‐transplant assessment of coronary artery disease and the prediction of post‐transplant cardiovascular events

Implementation of second-tier tests in newborn screening for the detection of vitamin B 12 related acquired and genetic disorders: results on 258,637 newborns

Phytoplankton and suitability of derived metrics for assessing the ecological status in a limno-reservoir, a Water Framework Directive nondefined type of Mediterranean waterbody

A new fatal case of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency

COVID-19 Vaccine Effectiveness in Autumn and Winter 2022 to 2023 Among Older Europeans

Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients

Screening for congenital disorders of glycosylation (CDG): Transferrin HPLC versus isoelectric focusing (IEF)

Loss of Wasl improves pancreatic cancer outcome

Erratum to “Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis”[Clin. Biochem. 42 (2009) 27–33]

Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency

50 años del programa de cribado neonatal en Cataluña

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