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Scott, C Ronald
29333  Ergebnisse:
Personensuche X
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1

Low-dose agalsidase beta treatment in male pediatric patien..:

Ramaswami, Uma ; Bichet, Daniel G. ; Clarke, Lorne A....
Molecular Genetics and Metabolism.  127 (2019)  1 - p. 86-94 , 2019
Link: https://doi.org/10.1016/..
 
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2

Validation of a therapeutic range for nitisinone in patient..:

Jack, Rhona M. ; Scott, C. Ronald
JIMD Reports.  46 (2019)  1 - p. 75-78 , 2019
Link: https://doi.org/10.1002/..
 
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3

Detection of mucopolysaccharidosis III-A (Sanfilippo Syndro..:

Yi, Fan ; Hong, Xinying ; Kumar, Arun Babu...
Molecular Genetics and Metabolism.  125 (2018)  1-2 - p. 59-63 , 2018
Link: https://doi.org/10.1016/..
 
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4

Specific Substrate for the Assay of Lysosomal Acid Lipase:

Gelb, Michael H ; Scott, C Ronald ; Turecek, Frantisek..
Clinical Chemistry.  64 (2018)  4 - p. 690-696 , 2018
Link: https://doi.org/10.1373/..
 
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5

Molecular pathogenicity of novel sucrase-isomaltase mutatio..:

Gericke, Birthe ; Amiri, Mahdi ; Scott, C. Ronald.
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1863 (2017)  3 - p. 817-826 , 2017
Link: https://doi.org/10.1016/..
 
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6

Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay..:

Turecek, Frantisek ; Gelb, Michael H ; Scott, C Ronald...
Clinical Chemistry.  63 (2017)  6 - p. 1118-1126 , 2017
Link: https://doi.org/10.1373/..
 
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7

Transformation in pretreatment manifestations of Gaucher di..:

Mistry, Pramod K. ; Batista, Julie L. ; Andersson, Hans C....
American Journal of Hematology.  92 (2017)  9 - p. 929-939 , 2017
Link: https://doi.org/10.1002/..
 
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8

Diagnosis and treatment of tyrosinemia type I: a US and Can..:

Chinsky, Jeffrey M ; Singh, Rani ; Ficicioglu, Can...
Genetics in Medicine.  19 (2017)  12 - p. 1380-1395 , 2017
Link: https://doi.org/10.1038/..
 
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9

SNPs, linkage disequilibrium, and chronic mountain sickness..:

Buroker, Norman ; Ning, Xue-Han ; Zhou, Zhao-Nian...
Hypoxia.  5 (2017)  - p. 67-74 , 2017
Link: https://doi.org/10.2147/..
 
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10

Mucopolysaccharidosis Type I Newborn Screening: Best Practi..:

Clarke, Lorne A. ; Atherton, Andrea M. ; Burton, Barbara K....
The Journal of Pediatrics.  182 (2017)  - p. 363-370 , 2017
Link: https://doi.org/10.1016/..
 
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11

Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Po..:

Gelb, Michael H ; Scott, C Ronald ; Turecek, Frantisek...
Clinical Chemistry.  63 (2017)  8 - p. 1363-1369 , 2017
Link: https://doi.org/10.1373/..
 
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12

Dataset and standard operating procedure for newborn screen..:

Elliott, Susan ; Buroker, Norman ; Cournoyer, Jason J....
Data in Brief.  8 (2016)  - p. 915-924 , 2016
Link: https://doi.org/10.1016/..
 
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13

Urinary Podocyte Loss Is Increased in Patients with Fabry D..:

Fall, Brent ; Scott, C. Ronald ; Mauer, Michael...
PLOS ONE.  11 (2016)  12 - p. e0168346 , 2016
Link: https://doi.org/10.1371/..
 
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14

Sulfatide Analysis by Mass Spectrometry for Screening of Me..:

Gelb, Michael H ; Turecek, Frantisek ; Scott, C Ronald...
Clinical Chemistry.  62 (2016)  1 - p. 279-286 , 2016
Link: https://doi.org/10.1373/..
 
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15

Pilot study of newborn screening for six lysosomal storage ..:

Elliott, Susan ; Buroker, Norman ; Cournoyer, Jason J....
Molecular Genetics and Metabolism.  118 (2016)  4 - p. 304-309 , 2016
Link: https://doi.org/10.1016/..
 
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