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Regularized MANOVA (rMANOVA) in untargeted metabolomics

Analytica chimica acta, 2015-10, Vol.899, p.1-12

2015

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Genotype-Specific Differences in the Tumor Metabolite Profile of Pheochromocytoma and Paraganglioma Using Untargeted and Targeted Metabolomics

The journal of clinical endocrinology and metabolism, 2015-02, Vol.100 (2), p.E214-E222

2015

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The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria

Journal of inherited metabolic disease, 2024-07, Vol.47 (4), p.624-635

2024

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Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine

Journal of inherited metabolic disease, 2019-05, Vol.42 (3), p.494-500

2019

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Sparse statistical health monitoring: A novel variable selection approach to diagnosis and follow-up of individual patients

Chemometrics and intelligent laboratory systems, 2017-05, Vol.164, p.83-93

2017

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Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases

Neurology, 2010-01, Vol.74 (4), p.302-305

2010

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How Does Image Content Affect the Added Value of Visual Attention in Objective Image Quality Assessment?

IEEE signal processing letters, 2013-04, Vol.20 (4), p.355-358

2013

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3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy

Neurology, 2010-09, Vol.75 (12), p.1079-1083

2010

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Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)

Brain (London, England : 1878), 2009-03, Vol.132 (3), p.801-809

2009

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Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolism

Annals of clinical biochemistry, 2003-01, Vol.40 (Pt 1), p.16-24

2003

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Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF

Neurology, 2004-05, Vol.62 (9), p.1503-1508

2004

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Aminoacylase I deficiency: A novel inborn error of metabolism

Biochemical and biophysical research communications, 2005-12, Vol.338 (3), p.1322-1326

2005

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Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

Molecular genetics and metabolism, 2006-05, Vol.88 (1), p.47-52

2006

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Leukoencephalopathy associated with a disturbance in the metabolism of polyols

Annals of neurology, 1999-12, Vol.46 (6), p.925-928

1999

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In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency

NMR in biomedicine, 2010-06, Vol.23 (5), p.441-445

2010

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Methylsulfonylmethane (MSM) ingestion causes a significant resonance in proton magnetic resonance spectra of brain and cerebrospinal fluid

Neuropediatrics, 2006-10, Vol.37 (5), p.312-314

2006

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Psychophysiology-Based QoE Assessment: A Survey

IEEE journal of selected topics in signal processing, 2017-02, Vol.11 (1), p.6-21

2017

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Hypoacetylaspartia: Clinical and Biochemical Follow-Up of a Patient

Advances in experimental medicine and biology, 2006, Vol.576, p.283-287

2006

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High-resolution proton nuclear magnetic resonance spectroscopy of ovarian cyst fluid

NMR in biomedicine, 2000-08, Vol.13 (5), p.297-305

2000

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Defect in Dimethylglycine Dehydrogenase, a New Inborn Error of Metabolism: NMR Spectroscopy Study

Clinical chemistry (Baltimore, Md.), 1999-04, Vol.45 (4), p.459-464

1999

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Sedation with 4‐hydroxybutyric acid: A potential pitfall in the diagnosis of SSADH deficiency

Journal of inherited metabolic disease, 2004-01, Vol.27 (2), p.291-293

2004

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Comparative Study of Fixation Density Maps

IEEE transactions on image processing, 2013-03, Vol.22 (3), p.1121-1133

2013

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Follow-up of a child with hypoacetylaspartia

Neuropediatrics, 2004-08, Vol.35 (4), p.255

2004

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Immersive Analytics

2015 Big Data Visual Analytics (BDVA), 2015, p.1-8

2015

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Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism

American journal of human genetics, 2006-03, Vol.78 (3), p.401-409

2006

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Regularized MANOVA (rMANOVA) in untargeted metabolomics

Genotype-Specific Differences in the Tumor Metabolite Profile of Pheochromocytoma and Paraganglioma Using Untargeted and Targeted Metabolomics

The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria

Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine

Sparse statistical health monitoring: A novel variable selection approach to diagnosis and follow-up of individual patients

Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases

How Does Image Content Affect the Added Value of Visual Attention in Objective Image Quality Assessment?

3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)

Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolism

Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF

Aminoacylase I deficiency: A novel inborn error of metabolism

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

Leukoencephalopathy associated with a disturbance in the metabolism of polyols

In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency

Methylsulfonylmethane (MSM) ingestion causes a significant resonance in proton magnetic resonance spectra of brain and cerebrospinal fluid

Psychophysiology-Based QoE Assessment: A Survey

Hypoacetylaspartia: Clinical and Biochemical Follow-Up of a Patient

High-resolution proton nuclear magnetic resonance spectroscopy of ovarian cyst fluid

Defect in Dimethylglycine Dehydrogenase, a New Inborn Error of Metabolism: NMR Spectroscopy Study

Sedation with 4‐hydroxybutyric acid: A potential pitfall in the diagnosis of SSADH deficiency

Comparative Study of Fixation Density Maps

Follow-up of a child with hypoacetylaspartia

Immersive Analytics

Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism

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