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The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP

PLoS genetics, 2020-07, Vol.16 (7), p.e1008884-e1008884

2020

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Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

American journal of human genetics, 2012-03, Vol.90 (3), p.457-466

2012

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SUCNR1-mediated chemotaxis of macrophages aggravates obesity-induced inflammation and diabetes

Diabetologia, 2017-07, Vol.60 (7), p.1304-1313

2017

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NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Nature genetics, 2016-07, Vol.48 (7), p.777-784

2016

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Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice

PloS one, 2012-08, Vol.7 (8), p.e42745-e42745

2012

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High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation

Translational research : the journal of laboratory and clinical medicine, 2015-12, Vol.166 (6), p.639-649.e1

2015

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Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis

Nature genetics, 2018-01, Vol.50 (1), p.120-129

2018

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Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

PLoS genetics, 2011-12, Vol.7 (12), p.e1002427-e1002427

2011

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A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses

PloS one, 2015-09, Vol.10 (9), p.e0138622-e0138622

2015

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Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Human molecular genetics, 2012-10, Vol.21 (19), p.4151-4161

2012

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Molecular identification in metabolomics using infrared ion spectroscopy

Scientific reports, 2017-06, Vol.7 (1), p.3363-5, Article 3363

2017

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Lactate infusion as therapeutical intervention: a scoping review

European journal of pediatrics, 2022-06, Vol.181 (6), p.2227-2235

2022

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A diagnostic biomarker profile for fibromyalgia syndrome based on an NMR metabolomics study of selected patients and controls

BMC neurology, 2017-05, Vol.17 (1), p.88-88, Article 88

2017

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CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

American journal of human genetics, 2015-02, Vol.96 (2), p.245-257

2015

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Evaluation of cyclooxygenase oxylipins as potential biomarker for obesity-associated adipose tissue inflammation and type 2 diabetes using targeted multiple reaction monitoring mass spectrometry

Prostaglandins, leukotrienes and essential fatty acids, 2020-09, Vol.160, p.102157-102157, Article 102157

2020

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Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

Genetics in medicine, 2021-09, Vol.23 (9), p.1705-1714

2021

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Fast, robust and high-resolution glycosylation profiling of intact monoclonal IgG antibodies using nanoLC-chip-QTOF

Clinica chimica acta, 2016-10, Vol.461, p.90-97

2016

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A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios[S]

Journal of lipid research, 2017-05, Vol.58 (5), p.1002-1007

2017

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Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review

Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.435-445

2018

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GC-MS-based urinary organic acid profiling reveals multiple dysregulated metabolic pathways following experimental acute alcohol consumption

Scientific reports, 2018-04, Vol.8 (1), p.5775-13, Article 5775

2018

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Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

American journal of human genetics, 2016-08, Vol.99 (2), p.521-521

2016

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The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

SUCNR1-mediated chemotaxis of macrophages aggravates obesity-induced inflammation and diabetes

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Molecular identification in metabolomics using infrared ion spectroscopy

Lactate infusion as therapeutical intervention: a scoping review

A diagnostic biomarker profile for fibromyalgia syndrome based on an NMR metabolomics study of selected patients and controls

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

Evaluation of cyclooxygenase oxylipins as potential biomarker for obesity-associated adipose tissue inflammation and type 2 diabetes using targeted multiple reaction monitoring mass spectrometry

Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

Fast, robust and high-resolution glycosylation profiling of intact monoclonal IgG antibodies using nanoLC-chip-QTOF

A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios[S]

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review

GC-MS-based urinary organic acid profiling reveals multiple dysregulated metabolic pathways following experimental acute alcohol consumption

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

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