Zobrazeno 1 - 10
of 453
pro vyhledávání: '"C Ronald, Scott"'
Autor:
Susan Elliott, Norman Buroker, Jason J. Cournoyer, Anna M. Potier, Joseph D. Trometer, Carole Elbin, Mack J. Schermer, Jaana Kantola, Aaron Boyce, Frantisek Turecek, Michael H. Gelb, C. Ronald Scott
Publikováno v:
Data in Brief, Vol 8, Iss , Pp 915-924 (2016)
In this data article we provide a detailed standard operating procedure for performing a tandem mass spectrometry, multiplex assay of 6 lysosomal enzymes for newborn screening of the lysosomal storage diseases Mucopolysaccharidosis-I, Pompe, Fabry, N
Externí odkaz:
https://doaj.org/article/c73301248a7d40c9a109b27c9bec71a8
Autor:
Martin Sadilek, Warunee Dansithong, C. Ronald Scott, Nicole Ruiz-Schultz, Xinying Hong, Stevie Norcross, Michael H. Gelb, Arun Kumar, Teryn R. Suhr, Maria L. Escolar, Jessica Daiker, Andreas Rohrwasser
Publikováno v:
Genetics in Medicine. 23:555-561
Purpose Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ARSA), which results in the accumulation of sulfatides. Newborn screening for MLD may be considered in the future as innovative tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d6fe0bff72d99a73e7f5119076a380c3
https://doi.org/10.1038/s41436-020-01017-5
https://doi.org/10.1038/s41436-020-01017-5
Autor:
Brent Fall, C Ronald Scott, Michael Mauer, Stuart Shankland, Jeffrey Pippin, Jonathan A Jefferson, Eric Wallace, David Warnock, Behzad Najafian
Publikováno v:
PLoS ONE, Vol 11, Iss 12, p e0168346 (2016)
Chronic kidney disease is a major complication of Fabry disease. Podocytes accumulate globotriaosylceramide inclusions more than other kidney cell types in Fabry patients. Podocyte injury occurs early in age, and is progressive. Since injured podocyt
Externí odkaz:
https://doaj.org/article/4e3b7e42ecd34ce48d2d9afc4fb7aebc
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 80-81 (2017)
Externí odkaz:
https://doaj.org/article/29d746cbc42741ea92fb41dd77662bf3
Autor:
Frits A Wijburg, Bernard Bénichou, Daniel G Bichet, Lorne A Clarke, Gabriela Dostalova, Alejandro Fainboim, Andreas Fellgiebel, Cassiano Forcelini, Kristina An Haack, Robert J Hopkin, Michael Mauer, Behzad Najafian, C Ronald Scott, Suma P Shankar, Beth L Thurberg, Camilla Tøndel, Anna Tylki-Szymańska, Uma Ramaswami
Publikováno v:
PLoS ONE, Vol 10, Iss 5, p e0124987 (2015)
Trial designThis analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an ongoing randomized, open-label, parallel-group, phase 3B clinical trial.MethodsM
Externí odkaz:
https://doaj.org/article/d2e2eaf3e691443aac855665f5d88ee5
Autor:
Rhona M, Jack, C Ronald, Scott
Publikováno v:
JIMD Reports
The drug nitisinone (NTBC; Orfadin, Vienna, Austria) has been used for the treatment of hereditary tyrosinemia type‐1 since 1991. Nitisinone effectively blocks the metabolism of tyrosine to prevent the formation of the toxic compound succinylaceton
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::47e33f6704b3e280a53365ce748bbc51
http://europepmc.org/articles/PMC6498826
http://europepmc.org/articles/PMC6498826
Autor:
Xinying, Hong, Jessica, Daiker, Martin, Sadilek, Nicole, Ruiz-Schultz, Arun Babu, Kumar, Stevie, Norcross, Warunee, Dansithong, Teryn, Suhr, Maria L, Escolar, C, Ronald Scott, Andreas, Rohrwasser, Michael H, Gelb
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(3)
Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ARSA), which results in the accumulation of sulfatides. Newborn screening for MLD may be considered in the future as innovative treatments
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a070d4d2b1589301a471e7edd213c0e6
https://pubmed.ncbi.nlm.nih.gov/33214709
https://pubmed.ncbi.nlm.nih.gov/33214709
Autor:
Can Ficicioglu, Katie Coakley, Clara D.M. van Karnebeek, Markus Grompe, Melissa P. Wasserstein, Jeffrey M. Chinsky, Grant A. Mitchell, Muge Gucsavas-Calikoglu, Susan E. Waisbren, C. Ronald Scott, Rani H. Singh
Publikováno v:
Genetics in medicine, 19(12):1380. Lippincott Williams and Wilkins
Genetics in Medicine
Genetics in Medicine
Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and neurologic systems and long term risks for hepatocellular carcinoma. An effective medical t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68c29bc84f63c953854f544679ccbc82
https://doi.org/10.1038/gim.2017.101
https://doi.org/10.1038/gim.2017.101
Autor:
František Tureček, Farideh Ghomashchi, C. Ronald Scott, Joseph J. Orsini, Joanne Kurtzberg, Hsuan-Chieh Liao, Zdenek Spacil, Michael H. Gelb, Maria L. Escolar
Publikováno v:
Clinical Chemistry. 63:1363-1369
BACKGROUND Deficiency of the lysosomal enzyme galactosylcerebrosidase (GALC) causes Krabbe disease. Newborn screening for Krabbe disease is ongoing, but improved methods for follow-up analysis of screen-positive babies are needed to better advise fam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a861c3e8ea6dffb2deaf6c8c0c718d4
https://doi.org/10.1373/clinchem.2016.264952
https://doi.org/10.1373/clinchem.2016.264952
Autor:
Joel Charrow, Manisha Balwani, Hans C. Andersson, Thomas A. Burrow, Barry E. Rosenbloom, Neal J. Weinreb, Edwin H. Kolodny, Aneal Khan, Priya S. Kishnani, Julie L. Batista, C. Ronald Scott, Pramod K. Mistry, Paige Kaplan
Publikováno v:
American Journal of Hematology
This study tests the hypothesis that the prevalence of severe clinical manifestations in Gaucher disease type 1 (GD1) patients at the time of treatment initiation has changed since alglucerase/imiglucerase enzyme replacement therapy (ERT) was approve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3cf4ef54b043861ad98aba02a023072
https://doi.org/10.1002/ajh.24801
https://doi.org/10.1002/ajh.24801