Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data

Autor: Anita Boelen, Frédéric M. Vaz, Annet M. Bosch, Peter C. J. I. Schielen, Annemieke C. Heijboer, Robert de Jonge, Marelle J. Bouva, Kevin Stroek

Publikováno v: Molecular genetics and metabolism, 124(1), 50-56. Academic Press Inc.
Stroek, K, Bouva, M J, Schielen, P C J I, Vaz, F M, Heijboer, A C, de Jonge, R, Boelen, A & Bosch, A M 2018, ' Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data ', Molecular Genetics and Metabolism, vol. 124, no. 1, pp. 50-56 . https://doi.org/10.1016/j.ymgme.2018.03.008
Molecular Genetics and Metabolism, 124(1), 50-56. Academic Press Inc.

Introduction Galactokinase (GALK) deficiency causes cataract leading to severe developmental consequences unless treated early. Because of the easy prevention and rapid reversibility of cataract with treatment, the Dutch Health Council advised to inc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24869906a772f0cf4cf979cd0b46c5b0
https://pure.amc.nl/en/publications/recommendations-for-newborn-screening-for-galactokinase-deficiency-a-systematic-review-and-evaluation-of-dutch-newborn-screening-data(2bbec8aa-3ffe-4985-b7c7-e5fd29ba3df1).html

Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead

Autor: Samantha E. Neumann, Brook M. Pyhtila, Judith L. Fridovich-Keil, Kelly A Shaw

Publikováno v: JIMD Reports ISBN: 9783662437506

It has been 50 years since the first newborn screening (NBS) test for galactosemia was conducted in Oregon, and almost 10 years since the last US state added galactosemia to their NBS panel. During that time an estimated >2,500 babies with classic ga

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::103624953d1678bab5936b9fdd406287
https://doi.org/10.1007/8904_2014_302

Use of a transfer plate with supporting frame for increased accuracy and efficiency in fluorometric microplate methods for mass screening

Autor: Toshiaki Oura, Akie Fujimoto

Publikováno v: Screening. 4:165-169

Introduction: Although the fluorometric method for galactosemia screening established by Yamaguchi et al. (Clin Chem 1989; 35: 1962) is an excellent method, it requires many pipette manipulations which increase the possibility of human errors. Method

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b06caf97f1e7765a76217cec40caf945
https://doi.org/10.1016/0925-6164(95)00121-2

Comparison of the effects of season and prematurity on the enzymatic newborn screening tests for galactosemia and biotinidase deficiency

Autor: Wanda Andrews, Joanne M. Meyer, Barry Wolf, Deborah L. Thibodeau, Paige L. Mitchell

Publikováno v: Screening. 2:19-27

In the Commonwealth of Virginia, 299,420 newborns were screened for biotinidase deficiency and galactosemia during the years 1989–1991 using enzymatic assays for galactose-l-phosphate uridyl transferase activity and biotinidase activity on dried bl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3142f026ac400c725b7202d1986c223b
https://doi.org/10.1016/0925-6164(93)90014-a

Laboratory quality control issues related to screening newborns for cystic fibrosis using immunoreactive trypsin

Autor: David J. Hassemer, Philip M. Farrell, Ronald H. Laessig, Gary Hoffman

Publikováno v: Pediatric pulmonology. Supplement. 7

We have incorporated the IRT assay for CF to our newborn screening program, relying heavily on electronic data processing to optimize the test results in order to provide the most reliable data possible from the specimen at hand. We have established

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96048d5986bc6bcfc1ad9e7f7d84f26d
https://pubmed.ncbi.nlm.nih.gov/1782137