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Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry

Journal of inherited metabolic disease, 2017-01, Vol.40 (1), p.151-158

2017

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Slc22a5 haploinsufficiency does not aggravate the phenotype of the long‐chain acyl‐CoA dehydrogenase KO mouse

Journal of inherited metabolic disease, 2020-05, Vol.43 (3), p.486-495

2020

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In vitro alternative for reactogenicity assessment of outer membrane vesicle based vaccines

Scientific reports, 2023-08, Vol.13 (1), p.12675-12675, Article 12675

2023

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Abnormal sodium and water homeostasis in mice with defective heparan sulfate polymerization

PloS one, 2019-07, Vol.14 (7), p.e0220333-e0220333

2019

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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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Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

Molecular genetics and metabolism, 2012-12, Vol.107 (4), p.705-710

2012

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Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses

Molecular genetics and metabolism, 2014-09, Vol.113 (1-2), p.92-99

2014

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Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses

Molecular genetics and metabolism reports, 2021-12, Vol.29, p.100797-100797, Article 100797

2021

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The Role of Virulence Proteins in Protection Conferred by Bordetella pertussis Outer Membrane Vesicle Vaccines

Vaccines (Basel), 2020-07, Vol.8 (3), p.429

2020

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Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse

Biochemical journal, 2005-04, Vol.387 (Pt 1), p.185-193

2005

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Supplementing pregnant mice with a specific mixture of nondigestible oligosaccharides reduces symptoms of allergic asthma in male offspring

The Journal of nutrition, 2015-03, Vol.145 (3), p.640-646

2015

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Measurement of carnitine biosynthesis enzyme activities by tandem mass spectrometry: Differences between the mouse and the rat

Analytical biochemistry, 2006-07, Vol.354 (1), p.132-139

2006

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Submitochondrial localization of 6-N-trimethyllysine dioxygenase - implications for carnitine biosynthesis

The FEBS journal, 2007-11, Vol.274 (22), p.5845-5851

2007

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Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice

Pediatric research, 2005-06, Vol.57 (6), p.760-764

2005

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Intracellular Water Shift and Disturbed Osmoregulatory Responses to High Sodium in Patients with Hereditary Multiple Exostosis: TH-OR27

Journal of the American Society of Nephrology, 2021-10, Vol.32 (10S), p.8-8

2021

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Effect of dietary lipid structure in early postnatal life on mouse adipose tissue development and function in adulthood

British journal of nutrition, 2014-01, Vol.111 (2), p.215-226

2014

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Phenotypic severity in MPS IIIA strongly correlates with increase in residual SGSH activity in skin fibroblasts cultured at 30oC

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S103-S103

2017

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Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting

Journal of cellular physiology, 2005-09, Vol.204 (3), p.839-847

2005

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Microvascular Permeability after an Acute and Chronic Salt Load in Healthy Subjects: A Randomized Open-label Crossover Intervention Study

Anesthesiology (Philadelphia), 2018-02, Vol.128 (2), p.352-360

2018

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Supplementing Pregnant Mice with a Specific Mixture of Nondigestible Oligosaccharides Reduces Symptoms of Allergic Asthma in Male Offspring1–3

The Journal of nutrition, 2015-03, Vol.145 (3), p.640-646

2015

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Prediction of phenotypic severity in mucopolysaccharidosis type IIIA

Annals of neurology, 2017-11, Vol.82 (5), p.686-696

2017

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Transorgan fluxes in a porcine model reveal a central role for liver in acylcarnitine metabolism

American journal of physiology: endocrinology and metabolism, 2015-08, Vol.309 (3), p.E256-E264

2015

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Processing and trafficking of N-acetyl-α-glucosaminidase in fibroblasts of patients with mucopolysaccharidosis type IIIB

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S95-S95

2017

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Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.129-137

2015

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Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry

Slc22a5 haploinsufficiency does not aggravate the phenotype of the long‐chain acyl‐CoA dehydrogenase KO mouse

In vitro alternative for reactogenicity assessment of outer membrane vesicle based vaccines

Abnormal sodium and water homeostasis in mice with defective heparan sulfate polymerization

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses

Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses

Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses

The Role of Virulence Proteins in Protection Conferred by Bordetella pertussis Outer Membrane Vesicle Vaccines

Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse

Supplementing pregnant mice with a specific mixture of nondigestible oligosaccharides reduces symptoms of allergic asthma in male offspring

Measurement of carnitine biosynthesis enzyme activities by tandem mass spectrometry: Differences between the mouse and the rat

Submitochondrial localization of 6-N-trimethyllysine dioxygenase - implications for carnitine biosynthesis

Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice

Intracellular Water Shift and Disturbed Osmoregulatory Responses to High Sodium in Patients with Hereditary Multiple Exostosis: TH-OR27

Effect of dietary lipid structure in early postnatal life on mouse adipose tissue development and function in adulthood

Phenotypic severity in MPS IIIA strongly correlates with increase in residual SGSH activity in skin fibroblasts cultured at 30oC

Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting

Microvascular Permeability after an Acute and Chronic Salt Load in Healthy Subjects: A Randomized Open-label Crossover Intervention Study

Supplementing Pregnant Mice with a Specific Mixture of Nondigestible Oligosaccharides Reduces Symptoms of Allergic Asthma in Male Offspring1–3

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

Transorgan fluxes in a porcine model reveal a central role for liver in acylcarnitine metabolism

Processing and trafficking of N-acetyl-α-glucosaminidase in fibroblasts of patients with mucopolysaccharidosis type IIIB

Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy

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