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Newborn Screening for Pompe Disease

Pediatrics (Evanston), 2017-07, Vol.140 (Suppl 1), p.S4-S13

2017

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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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Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

Journal of medical genetics, 2015-05, Vol.52 (5), p.353-358

2015

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Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

American journal of human genetics, 2013-10, Vol.93 (4), p.631-640

2013

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Newborn screening for lysosomal storage diseases

Clinical chemistry (Baltimore, Md.), 2015-02, Vol.61 (2), p.335-346

2015

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Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

Genetics in medicine, 2017-12, Vol.19 (12), p.1380-1380

2017

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Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry

The Journal of pediatrics, 2013-08, Vol.163 (2), p.498-503

2013

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Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

Human mutation, 2008-05, Vol.29 (5), p.567-583

2008

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Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples

Clinical chemistry (Baltimore, Md.), 2016-01, Vol.62 (1), p.279-286

2016

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Specific Substrate for the Assay of Lysosomal Acid Lipase

Clinical chemistry (Baltimore, Md.), 2018-04, Vol.64 (4), p.690-696

2018

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Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

Molecular genetics and metabolism, 2016-08, Vol.118 (4), p.304-309

2016

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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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Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy

PloS one, 2016-12, Vol.11 (12), p.e0168346-e0168346

2016

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High-throughput assay of 9 lysosomal enzymes for newborn screening

Clinical chemistry (Baltimore, Md.), 2013-03, Vol.59 (3), p.502-511

2013

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The genetic tyrosinemias

American journal of medical genetics. Part C, Seminars in medical genetics, 2006-05, Vol.142C (2), p.121-126

Scott, C. Ronald

2006

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Response to Neeleman et al

Genetics in medicine, 2020-02, Vol.22 (2), p.439-440

2020

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Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI

Clinical chemistry (Baltimore, Md.), 2015-11, Vol.61 (11), p.1363-1371

2015

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Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers

Molecular genetics and metabolism, 2018-06, Vol.124 (2), p.101-108

2018

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Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

The Journal of pediatrics, 2017-03, Vol.182, p.363-370

2017

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A Tandem Mass Spectrometry Triplex Assay for the Detection of Fabry, Pompe, and Mucopolysaccharidosis-I (Hurler)

Clinical chemistry (Baltimore, Md.), 2010-12, Vol.56 (12), p.1854-1861

2010

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Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial

PloS one, 2015-05, Vol.10 (5), p.e0124987-e0124987

2015

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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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Improved Reagents for Newborn Screening of Mucopolysaccharidosis Types I, II, and VI by Tandem Mass Spectrometry

Analytical chemistry (Washington), 2014-05, Vol.86 (9), p.4508-4514

2014

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Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening

Clinical chemistry (Baltimore, Md.), 2004-10, Vol.50 (10), p.1785-1796

2004

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Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis II (Hunter Syndrome)

Analytical chemistry (Washington), 2011-02, Vol.83 (3), p.1152-1156

2011

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Newborn Screening for Pompe Disease

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

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

Newborn screening for lysosomal storage diseases

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples

Specific Substrate for the Assay of Lysosomal Acid Lipase

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

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

Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy

High-throughput assay of 9 lysosomal enzymes for newborn screening

The genetic tyrosinemias

Response to Neeleman et al

Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI

Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

A Tandem Mass Spectrometry Triplex Assay for the Detection of Fabry, Pompe, and Mucopolysaccharidosis-I (Hurler)

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial

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

Improved Reagents for Newborn Screening of Mucopolysaccharidosis Types I, II, and VI by Tandem Mass Spectrometry

Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis II (Hunter Syndrome)

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