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Trimethylamine‐N‐oxide is elevated in the acute phase after ischaemic stroke and decreases within the first days

European journal of neurology, 2020-08, Vol.27 (8), p.1596-1603

2020

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In smiles we trust? Smiling in the context of antisocial and borderline personality pathology

PloS one, 2020-06, Vol.15 (6), p.e0234574-e0234574

2020

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Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency

Molecular genetics and metabolism, 2022-09, Vol.137 (1-2), p.18-25

2022

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The branched-chain amino acid transaminase 1 sustains growth of antiestrogen-resistant and ERα-negative breast cancer

Oncogene, 2017-07, Vol.36 (29), p.4124-4134

2017

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Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria

Human molecular genetics, 2015-12, Vol.24 (24), p.7049-7059

2015

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Pretreatment d-2-hydroxyglutarate serum levels negatively impact on outcome in IDH1-mutated acute myeloid leukemia

Leukemia, 2016-04, Vol.30 (4), p.782-788

2016

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Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I)

Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.5-22

2007

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Three classes of inhibitors share a common binding domain in mitochondrial complex I (NADH:ubiquinone oxidoreductase)

The Journal of biological chemistry, 1999-01, Vol.274 (5), p.2625-2630

1999

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Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

Acta anaesthesiologica Scandinavica, 2012-04, Vol.56 (4), p.520-525

2012

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Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency ( Aldh5a1 −/− mice)

Neurochemistry international, 2007-03, Vol.50 (4), p.653-659

2007

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Neurodegeneration and chronic renal failure in methylmalonic aciduria—A pathophysiological approach

Journal of inherited metabolic disease, 2008-02, Vol.31 (1), p.35-43

2008

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Methylmalonic acid--an endogenous toxin?

Cellular and molecular life sciences : CMLS, 2005-03, Vol.62 (6), p.621-624

2005

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Neurodegeneration in Methylmalonic Aciduria Involves Inhibition of Complex II and the Tricarboxylic Acid Cycle, and Synergistically Acting Excitotoxicity

The Journal of biological chemistry, 2002-04, Vol.277 (17), p.14674-14680

2002

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High pre-transplant serum nitrate levels predict risk of acute steroid-refractory graft-versus-host disease in the absence of statin therapy

Haematologica (Roma), 2014-03, Vol.99 (3), p.541-547

2014

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Newborn screening for homocystinurias: recent recommendations versus current practice

Journal of inherited metabolic disease, 2018-06, p.1-12

2018

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Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias

Journal of inherited metabolic disease, 2009-12, Vol.32 (6), p.720-727

2009

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Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts

Journal of medical genetics, 2007-05, Vol.44 (5), p.298-305

2007

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Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism

Journal of inherited metabolic disease, 2008-04, Vol.31 (2), p.194-204

2008

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Coenzyme Q₁₀ is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria

Journal of inherited metabolic disease, 2009, Vol.32 (4), p.570-575

2009

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Abstract No. 450 Cost analysis of prostate artery embolization and medical management in the treatment of benign prostatic hyperplasia

Journal of vascular and interventional radiology, 2019-03, Vol.30 (3), p.S196-S197

2019

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Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1 super(-/-) mice)

Neurochemistry international, 2007-03, Vol.50 (4), p.653-659

2007

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Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria

Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.570-575

2009

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The uptake of trimethylamine N-oxide (TMAO) and its influence on endothelial cell identity and inflammation

European heart journal, 2021-10, Vol.42 (Supplement_1)

2021

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Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen

Neuropediatrics, 2003-10, Vol.34 (5), p.253-260

2003

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Trimethylamine‐N‐oxide is elevated in the acute phase after ischaemic stroke and decreases within the first days

In smiles we trust? Smiling in the context of antisocial and borderline personality pathology

Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency

The branched-chain amino acid transaminase 1 sustains growth of antiestrogen-resistant and ERα-negative breast cancer

Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria

Pretreatment d-2-hydroxyglutarate serum levels negatively impact on outcome in IDH1-mutated acute myeloid leukemia

Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I)

Three classes of inhibitors share a common binding domain in mitochondrial complex I (NADH:ubiquinone oxidoreductase)

Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency ( Aldh5a1 −/− mice)

Neurodegeneration and chronic renal failure in methylmalonic aciduria—A pathophysiological approach

Methylmalonic acid--an endogenous toxin?

Neurodegeneration in Methylmalonic Aciduria Involves Inhibition of Complex II and the Tricarboxylic Acid Cycle, and Synergistically Acting Excitotoxicity

High pre-transplant serum nitrate levels predict risk of acute steroid-refractory graft-versus-host disease in the absence of statin therapy

Newborn screening for homocystinurias: recent recommendations versus current practice

Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias

Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts

Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism

Coenzyme Q₁₀ is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria

Abstract No. 450 Cost analysis of prostate artery embolization and medical management in the treatment of benign prostatic hyperplasia

Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1 super(-/-) mice)

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria

The uptake of trimethylamine N-oxide (TMAO) and its influence on endothelial cell identity and inflammation

Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen

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