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A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism

Genetics in medicine, 2020-07, Vol.22 (7), p.1262-1268

2020

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Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots

Genetics in medicine, 2021-03, Vol.23 (3), p.555-561

2021

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Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix

Genome Biology, 2023-07, Vol.24 (1), p.172-172

2023

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One-step synthesis of carbon-13-labeled globotriaosylsphingosine (lyso-Gb3), an internal standard for biomarker analysis of Fabry disease

Molecular genetics and metabolism, 2018-11, Vol.125 (3), p.292-294

2018

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Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis

Clinical chemistry (Baltimore, Md.), 2017-06, Vol.63 (6), p.1118-1126

2017

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Neuron-specific ablation of the Krabbe disease gene galactosylceramidase in mice results in neurodegeneration

PLoS biology, 2022-07, Vol.20 (7), p.e3001661-e3001661

2022

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Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots

Genetics in medicine, 2020-10, Vol.22 (10), p.1606-1612

2020

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N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease

Journal of lipid research, 2019-08, Vol.60 (8), p.1410-1424

2019

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Clinical, biochemical and molecular characterization of a new case with FDX2‐related mitochondrial disorder: Potential biomarkers and treatment options

JIMD reports, 2024-03, Vol.65 (2), p.102-109

2024

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UPLC-MS/MS analysis of urinary oligosaccharides for the diagnosis of mucopolysaccharidosis and glycoproteinosis

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107883, Article 107883

2024

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Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots

Molecular genetics and metabolism reports, 2022-12, Vol.33, p.100935-100935, Article 100935

2022

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Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry

Molecular genetics and metabolism, 2018-09, Vol.125 (1-2), p.59-63

2018

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Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III

Molecular genetics and metabolism reports, 2023-06, Vol.35, p.100978-100978, Article 100978

2023

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Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories

International journal of neonatal screening, 2022-11, Vol.8 (4), p.62

2022

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Thymine Hyperexcretion in a Patient with Abnormal Newborn Screen for Glutaric Aciduria Type I

Clinical chemistry (Baltimore, Md.), 2023-04, Vol.69 (4), p.431-432

2023

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Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

Molecular genetics and metabolism reports, 2022-12, Vol.33, p.100931-100931, Article 100931

2022

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Newborn Screening for Classic Galactosemia: Biochemical Testings, Challenges, and Future

OBM Genetics, 2022-05, Vol.6 (3), p.1-1

2022

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DUAL DIAGNOSIS OF PMM2-CDG AND HEREDITARY FRUCTOSE INTOLERANCE IN A CHILD WITH MILD CLINICAL TRAJECTORY: A CASE REPORT

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.277-277

2022

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Single vs. dual transgene ex vivo gene therapy for multiple sulfatase deficiency

Molecular genetics and metabolism, 2024-02, Vol.141 (2)

2024

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Single vs. dual transgene gene therapy for multiple sulfatase deficiency

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107996, Article 107996

2024

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A 6-Month-Old Infant with Severe Failure to Thrive during COVID-19 Pandemic

Clinical chemistry (Baltimore, Md.), 2022-07, Vol.68 (7), p.987-989

2022

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Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome

Clinical chemistry (Baltimore, Md.), 2022-02, Vol.68 (2), p.365

2022

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Patient-derived NGN2-induced neurons recapitulate biochemical phenotypes of multiple sulfatase deficiency in vitro

Molecular genetics and metabolism, 2024-02, Vol.141 (2)

2024

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Patient-derived NGN2-induced neurons recapitulate biochemical phenotypes of multiple sulfatase deficiency

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107788, Article 107788

2024

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Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis

Clinical chemistry (Baltimore, Md.), 2024-04

2024

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A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism

Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots

Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix

One-step synthesis of carbon-13-labeled globotriaosylsphingosine (lyso-Gb3), an internal standard for biomarker analysis of Fabry disease

Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis

Neuron-specific ablation of the Krabbe disease gene galactosylceramidase in mice results in neurodegeneration

Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots

N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease

Clinical, biochemical and molecular characterization of a new case with FDX2‐related mitochondrial disorder: Potential biomarkers and treatment options

UPLC-MS/MS analysis of urinary oligosaccharides for the diagnosis of mucopolysaccharidosis and glycoproteinosis

Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots

Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry

Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III

Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories

Thymine Hyperexcretion in a Patient with Abnormal Newborn Screen for Glutaric Aciduria Type I

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

Newborn Screening for Classic Galactosemia: Biochemical Testings, Challenges, and Future

DUAL DIAGNOSIS OF PMM2-CDG AND HEREDITARY FRUCTOSE INTOLERANCE IN A CHILD WITH MILD CLINICAL TRAJECTORY: A CASE REPORT

Single vs. dual transgene ex vivo gene therapy for multiple sulfatase deficiency

Single vs. dual transgene gene therapy for multiple sulfatase deficiency

A 6-Month-Old Infant with Severe Failure to Thrive during COVID-19 Pandemic

Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome

Patient-derived NGN2-induced neurons recapitulate biochemical phenotypes of multiple sulfatase deficiency in vitro

Patient-derived NGN2-induced neurons recapitulate biochemical phenotypes of multiple sulfatase deficiency

Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis

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