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Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria

The Lancet (British edition), 2012-01, Vol.379 (9813), p.335-341

2012

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Serum levels of interleukin-8 and gut-associated biomarkers in diagnosing necrotizing enterocolitis in preterm infants

Journal of pediatric surgery, 2014-10, Vol.49 (10), p.1446-1451

2014

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Simplified Newborn Screening Protocol for Lysosomal Storage Disorders

Clinical chemistry (Baltimore, Md.), 2011-09, Vol.57 (9), p.1286-1294

2011

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Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.57-61

2017

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Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.148-153

2018

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At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening

International journal of neonatal screening, 2020-12, Vol.6 (4), p.96

2020

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Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2012-11, Vol.908, p.9-17

2012

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Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders

ACS central science, 2018-12, Vol.4 (12), p.1688-1696

2018

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Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease

Molecular genetics and metabolism, 2023-05, Vol.139 (1), p.107563-107563, Article 107563

2023

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Diagnostic strategy for females suspected of Fabry disease

Clinical genetics, 2020-04, Vol.97 (4), p.655-660

2020

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α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an ‘MPS-like’ phenotype

Molecular genetics and metabolism, 2020-06, Vol.130 (2), p.149-152

2020

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The bacterial load of Ureaplasma parvum in amniotic fluid is correlated with an increased intrauterine inflammatory response

Diagnostic microbiology and infectious disease, 2010-06, Vol.67 (2), p.117-121

2010

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MALDI Orbitrap mass spectrometry for fast and simplified analysis of novel street and designer drugs

Clinica chimica acta, 2014-06, Vol.433, p.254-258

2014

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In utero exposure to Ureaplasma spp. is associated with increased rate of bronchopulmonary dysplasia and intraventricular hemorrhage in preterm infants

Journal of perinatal medicine, 2011-05, Vol.39 (3), p.331-336

2011

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DNA methylation pattern of CALCA in preterm neonates with bacterial sepsis as a putative epigenetic biomarker

Epigenetics, 2013-12, Vol.8 (12), p.1261-1267

2013

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Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.57-61

2017

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Molecular Detection of Late-Onset Neonatal Sepsis in Premature Infants Using Small Blood Volumes: Proof-of-Concept

Neonatology (Basel, Switzerland), 2013-05, Vol.103 (4), p.268-273

2013

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The application of multiplexed, multi-dimensional ultra-high-performance liquid chromatography/tandem mass spectrometry to the high-throughput screening of lysosomal storage disorders in newborn dried bloodspots

Rapid communications in mass spectrometry, 2010-04, Vol.24 (7), p.986-994

2010

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The plasma activities of lysosomal enzymes in infants with necrotizing enterocolitis: New promising class of biomarkers?

Clinica chimica acta, 2015-01, Vol.438, p.279-283

2015

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The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals

Wiener Klinische Wochenschrift, 2010-11, Vol.122 (21-22), p.607-613

2010

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Matrix-assisted laser desorption/ionization for simultaneous quantitation of (acyl-)carnitines and organic acids in dried blood spots

Rapid communications in mass spectrometry, 2013-07, Vol.27 (13), p.1497-1504

2013

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Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy

BMJ open respiratory research, 2018-01, Vol.5 (1), p.e000277-e000277

2018

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Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine

Clinica chimica acta, 2012-08, Vol.413 (15-16), p.1259-1264

2012

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Results from two year pilot study for identifying inherited myopathies by combining enzymatical testing with "clinical symptomatic-based next-generation sequencing"

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107329, Article 107329

2023

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Strategy for diagnosis of neuronal ceroid lipofuscinoses

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107250, Article 107250

2023

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Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria

Serum levels of interleukin-8 and gut-associated biomarkers in diagnosing necrotizing enterocolitis in preterm infants

Simplified Newborn Screening Protocol for Lysosomal Storage Disorders

Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease

At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening

Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening

Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders

Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease

Diagnostic strategy for females suspected of Fabry disease

α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an ‘MPS-like’ phenotype

The bacterial load of Ureaplasma parvum in amniotic fluid is correlated with an increased intrauterine inflammatory response

MALDI Orbitrap mass spectrometry for fast and simplified analysis of novel street and designer drugs

In utero exposure to Ureaplasma spp. is associated with increased rate of bronchopulmonary dysplasia and intraventricular hemorrhage in preterm infants

DNA methylation pattern of CALCA in preterm neonates with bacterial sepsis as a putative epigenetic biomarker

Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

Molecular Detection of Late-Onset Neonatal Sepsis in Premature Infants Using Small Blood Volumes: Proof-of-Concept

The application of multiplexed, multi-dimensional ultra-high-performance liquid chromatography/tandem mass spectrometry to the high-throughput screening of lysosomal storage disorders in newborn dried bloodspots

The plasma activities of lysosomal enzymes in infants with necrotizing enterocolitis: New promising class of biomarkers?

The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals

Matrix-assisted laser desorption/ionization for simultaneous quantitation of (acyl-)carnitines and organic acids in dried blood spots

Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy

Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine

Results from two year pilot study for identifying inherited myopathies by combining enzymatical testing with "clinical symptomatic-based next-generation sequencing"

Strategy for diagnosis of neuronal ceroid lipofuscinoses

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