Search Results - "Ronald Scott, C."

Newborn Screening for Pompe Disease by Bodamer, Olaf A, Scott, C Ronald, Giugliani, Roberto

“…Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen…”
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Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease by Germain, Dominique P, Charrow, Joel, Desnick, Robert J, Guffon, Nathalie, Kempf, Judy, Lachmann, Robin H, Lemay, Roberta, Linthorst, Gabor E, Packman, Seymour, Scott, C Ronald, Waldek, Stephen, Warnock, David G, Weinreb, Neal J, Wilcox, William R

“…Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic…”
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Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots by Hong, Xinying, Daiker, Jessica, Sadilek, Martin, Ruiz-Schultz, Nicole, Kumar, Arun Babu, Norcross, Stevie, Dansithong, Warunee, Suhr, Teryn, Escolar, Maria L., Ronald Scott, C., Rohrwasser, Andreas, Gelb, Michael H.

“…Purpose Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ARSA), which results in the…”
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Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes by Dorschner, Michael O., Amendola, Laura M., Turner, Emily H., Robertson, Peggy D., Shirts, Brian H., Gallego, Carlos J., Bennett, Robin L., Jones, Kelly L., Tokita, Mari J., Bennett, James T., Kim, Jerry H., Rosenthal, Elisabeth A., Kim, Daniel S., Tabor, Holly K., Bamshad, Michael J., Motulsky, Arno G., Scott, C. Ronald, Pritchard, Colin C., Walsh, Tom, Burke, Wylie, Raskind, Wendy H., Byers, Peter, Hisama, Fuki M., Nickerson, Deborah A., Jarvik, Gail P.

“…The incorporation of genomics into medicine is stimulating interest on the return of incidental findings (IFs) from exome and genome sequencing. However, no…”
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Newborn screening for lysosomal storage diseases by Gelb, Michael H, Scott, C Ronald, Turecek, Frantisek

“…There is worldwide interest in newborn screening for lysosomal storage diseases because of the development of treatment options that give better results when…”
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Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations by Chinsky, Jeffrey M, Singh, Rani, Ficicioglu, Can, van Karnebeek, Clara D M, Grompe, Markus, Mitchell, Grant, Waisbren, Susan E, Gucsavas-Calikoglu, Muge, Wasserstein, Melissa P, Coakley, Katie, Scott, C Ronald

“…Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and…”
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Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry by Scott, C. Ronald, MD, Elliott, Susan, BS, Buroker, Norman, PhD, Thomas, Lauren I., MS, Keutzer, Joan, PhD, Glass, Michael, MS, Gelb, Michael H., PhD, Turecek, Frantisek, PhD

“…Objective To assess the performance of a tandem mass spectrometry (MS/MS) technology in a newborn screening laboratory to simultaneously measure…”
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Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA) by Hruska, Kathleen S, LaMarca, Mary E, Scott, C. Ronald, Sidransky, Ellen

“…Gaucher disease (GD) is an autosomal recessive disorder caused by the deficiency of glucocerebrosidase, a lysosomal enzyme that catalyses the hydrolysis of the…”
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Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry by Elliott, Susan, Buroker, Norman, Cournoyer, Jason J., Potier, Anna M., Trometer, Joseph D., Elbin, Carole, Schermer, Mack J., Kantola, Jaana, Boyce, Aaron, Turecek, Frantisek, Gelb, Michael H., Scott, C. Ronald

“…There is current expansion of newborn screening (NBS) programs to include lysosomal storage disorders because of the availability of treatments that produce an…”
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Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples by Spacil, Zdenek, Babu Kumar, Arun, Liao, Hsuan-Chieh, Auray-Blais, Christiane, Stark, Samantha, Suhr, Teryn R, Scott, C Ronald, Turecek, Frantisek, Gelb, Michael H

“…Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder caused by deficiency in arylsulfatase A activity, leading to accumulation of sulfatide…”
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Specific Substrate for the Assay of Lysosomal Acid Lipase by Masi, Sophia, Chennamaneni, Naveen, Turecek, Frantisek, Scott, C Ronald, Gelb, Michael H

“…Deficiency of lysosomal acid lipase (LAL) causes Wolman disease and cholesterol ester storage disease. With the recent introduction of enzyme replacement…”
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Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis by Liu, Yang, Yi, Fan, Kumar, Arun Babu, Kumar Chennamaneni, Naveen, Hong, Xinying, Scott, C Ronald, Gelb, Michael H, Turecek, Frantisek

“…We expanded the use of tandem mass spectrometry combined with liquid chromatography (LC-MS/MS) for multiplex newborn screening of seven lysosomal enzymes in…”
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High-throughput assay of 9 lysosomal enzymes for newborn screening by Spacil, Zdenek, Tatipaka, Haribabu, Barcenas, Mariana, Scott, C Ronald, Turecek, Frantisek, Gelb, Michael H

“…There is interest in newborn screening of lysosomal storage diseases (LSDs) because of the availability of treatments. Pilot studies have used tandem mass…”
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Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy by Fall, Brent, Scott, C Ronald, Mauer, Michael, Shankland, Stuart, Pippin, Jeffrey, Jefferson, Jonathan A, Wallace, Eric, Warnock, David, Najafian, Behzad

“…Chronic kidney disease is a major complication of Fabry disease. Podocytes accumulate globotriaosylceramide inclusions more than other kidney cell types in…”
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Response to Neeleman et al by Chinsky, Jeffrey M., Ficicioglu, Can, Ronald Scott, C.

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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 by Kumar, Arun Babu, Masi, Sophia, Ghomashchi, Farideh, Chennamaneni, Naveen Kumar, Ito, Makoto, Scott, C Ronald, Turecek, Frantisek, Gelb, Michael H, Spacil, Zdenek

“…There is interest in newborn screening and diagnosis of lysosomal storage diseases because of the development of treatment options that improve clinical…”
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The genetic tyrosinemias by Scott, C. Ronald

“…The genetic tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. The most severe form of tyrosinemia, Type I, is a…”
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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 by Hong, Xinying, Kumar, Arun Babu, Ronald Scott, C., Gelb, Michael H.

“…All States screen for biotinidase deficiency and galactosemia, and X-linked adrenoleukodystrophy (X-ALD) has recently been added to the Recommended Uniform…”
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Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management by Clarke, Lorne A., MD, CM, FRCPC, FCCMG, Atherton, Andrea M., MS, CGC, Burton, Barbara K., MD, FAAP, FACMG, Day-Salvatore, Debra L., MD, PhD, FAAP, FACMG, Kaplan, Paige, MBBCh, FRCPC, FCCMG, FAAP, FACMG, Leslie, Nancy D., MD, Scott, C. Ronald, MD, Stockton, David W., MD, FACMG, Thomas, Janet A., MD, FAAP, FACMG, Muenzer, Joseph, MD, PhD

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A Tandem Mass Spectrometry Triplex Assay for the Detection of Fabry, Pompe, and Mucopolysaccharidosis-I (Hurler) by DUFFEY, Trisha A, BELLAMY, Garland, ELLIOTT, Susan, FOX, Angela C, GLASS, Michael, TURECEK, Frantisek, GELB, Michael H, RONALD SCOTT, C

“…We sought to develop a tandem mass spectrometry assay in which the enzymatic activities of 3 lysosomal enzymes (α-glucosidase, α-galactosidase A, and…”
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