Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Newborn screening panel"'
Autor:
Sandra J. Dawe, Sean T. Mochal, Jennifer M. Kwon, Bethany R. Zeitler, Michael F. Cogley, Amy E. Wiberley-Bradford, Zachary D. Piro, Mathew M. Harmelink, Mei W. Baker
Publikováno v:
Neuromuscular Disorders. 32:135-141
Spinal muscular atrophy was recently added to the Wisconsin newborn screening panel. Here we report our screening methods, algorithm, and outcomes. Methods: A multiplex real-time PCR assay was used to identify newborns with homozygous SMN1 exon 7 del
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aebef3da4439e2168ad15b6ecc343ac0
https://doi.org/10.1016/j.nmd.2021.07.398
https://doi.org/10.1016/j.nmd.2021.07.398
Publikováno v:
Genetics in Medicine. 22:1262-1268
To develop a multiplexed assay for the newborn screening of lysosomal storage disorders and additional inborn errors in a flexible, comprehensive, and affordable manner to keep up with the expansion of the newborn screening panel. Ultraperformance li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78dddfb441c9d312b391dd68275f83eb
https://doi.org/10.1038/s41436-020-0790-9
https://doi.org/10.1038/s41436-020-0790-9
Publikováno v:
Journal of labelled compoundsradiopharmaceuticalsREFERENCES. 64(5)
Acylcarnitines are a big family of small molecule metabolites with various acyl groups attached to the hydroxyl moiety of l-carnitine. They are good indicators of multiple metabolic disorders. For instance, the newborn screening panel uses flow injec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb1ad240204f3ecda3016f7bc0244181
https://pubmed.ncbi.nlm.nih.gov/33480078
https://pubmed.ncbi.nlm.nih.gov/33480078
Autor:
Rinse W. Barendsen, Inge M. E. Dijkstra, Wouter F. Visser, Mariëlle Alders, Jet Bliek, Anita Boelen, Marelle J. Bouva, Saskia N. van der Crabben, Ellen Elsinghorst, Ankie G. M. van Gorp, Annemieke C. Heijboer, Mandy Jansen, Yorrick R. J. Jaspers, Henk van Lenthe, Ingrid Metgod, Christiaan F. Mooij, Elise H. C. van der Sluijs, A. S. Paul van Trotsenburg, Rendelien K. Verschoof-Puite, Frédéric M. Vaz, Hans R. Waterham, Frits A. Wijburg, Marc Engelen, Eugènie Dekkers, Stephan Kemp
Publikováno v:
Frontiers in cell and developmental biology, 8:499. Frontiers Media S.A.
Frontiers in Cell and Developmental Biology
Frontiers in Cell and Developmental Biology, 8:499. Frontiers Media S.A.
Barendsen, R W, Dijkstra, I M E, Visser, W F, Alders, M, Bliek, J, Boelen, A, Bouva, M J, van der Crabben, S N, Elsinghorst, E, van Gorp, A G M, Heijboer, A C, Jansen, M, Jaspers, Y R J, van Lenthe, H, Metgod, I, Mooij, C F, van der Sluijs, E H C, van Trotsenburg, A S P, Verschoof-Puite, R K, Vaz, F M, Waterham, H R, Wijburg, F A, Engelen, M, Dekkers, E & Kemp, S 2020, ' Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study) : The X-Factor ', Frontiers in Cell and Developmental Biology, vol. 8, 499 . https://doi.org/10.3389/fcell.2020.00499
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Frontiers in Cell and Developmental Biology
Frontiers in Cell and Developmental Biology, 8:499. Frontiers Media S.A.
Barendsen, R W, Dijkstra, I M E, Visser, W F, Alders, M, Bliek, J, Boelen, A, Bouva, M J, van der Crabben, S N, Elsinghorst, E, van Gorp, A G M, Heijboer, A C, Jansen, M, Jaspers, Y R J, van Lenthe, H, Metgod, I, Mooij, C F, van der Sluijs, E H C, van Trotsenburg, A S P, Verschoof-Puite, R K, Vaz, F M, Waterham, H R, Wijburg, F A, Engelen, M, Dekkers, E & Kemp, S 2020, ' Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study) : The X-Factor ', Frontiers in Cell and Developmental Biology, vol. 8, 499 . https://doi.org/10.3389/fcell.2020.00499
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
X-linked adrenoleukodystrophy (ALD) is a devastating metabolic disorder affecting the adrenal glands, brain and spinal cord. Males with ALD are at high risk for developing adrenal insufficiency or progressive cerebral white matter lesions (cerebral A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a99b3365e5f57ef3c55cd3b5e744ceab
https://doi.org/10.3389/fcell.2020.00499
https://doi.org/10.3389/fcell.2020.00499
Autor:
Lisa A. Hom, Amal Fadel, Youssef Mouaffak, Gerard R. Martin, Drissi Boumzebra, S. Younous, Fatiha Bennaoui, Fadl Mrabih Rabou Maoulainine, Nadia El Idrissi Slitine, Soufiane El Moussaoui, Craig Sable, Nadir Inajjarne, Lahcen Boukhanni
Publikováno v:
International Journal of Neonatal Screening
Volume 6
Issue 3
International Journal of Neonatal Screening, Vol 6, Iss 53, p 53 (2020)
Volume 6
Issue 3
International Journal of Neonatal Screening, Vol 6, Iss 53, p 53 (2020)
Congenital heart disease (CHD) is the most common congenital malformation. Diagnosis of critical congenital heart disease (CCHD), the most severe type of congenital heart disease, in a newborn may be difficult. The addition of CCHD screening, using p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb41b5b82fb07f833954db179773e653
http://europepmc.org/articles/PMC7570348
http://europepmc.org/articles/PMC7570348
Autor:
Stephen R. Master, Khushbu Patel
Inborn errors of metabolism (IEMs) are a broad category of genetic disorders caused by defects in biochemical pathways important for breakdown of biomolecules and energy production. Accumulation of toxic substrates and/or deficits in downstream produ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e76230ce5f2c5ae3b91fd726bd2423d1
https://doi.org/10.1016/b978-0-12-815499-1.00048-x
https://doi.org/10.1016/b978-0-12-815499-1.00048-x
Publikováno v:
International Journal of Neonatal Screening
Volume 5
Issue 2
International Journal of Neonatal Screening, Vol 5, Iss 2, p 19 (2019)
Volume 5
Issue 2
International Journal of Neonatal Screening, Vol 5, Iss 2, p 19 (2019)
Galactosaemia has been included in various newborn screening programs since 1963. Several methods are used for screening
however, the predominant methods used today are based on the determination of either galactose-1-phosphate uridyltransferase
however, the predominant methods used today are based on the determination of either galactose-1-phosphate uridyltransferase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b29a6014f11a0fcff474fb046567a16
Autor:
Ahmed Bashir
Publikováno v:
Academic Journal of Pediatrics & Neonatology. 6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ef8a3d7f3c27f94514775429c463bb70
https://doi.org/10.19080/ajpn.2018.06.555753
https://doi.org/10.19080/ajpn.2018.06.555753
Publikováno v:
World Journal of Pediatrics. 11:160-164
Galactosemia due to complete or near-complete galactose-1-phosphate uridyltransferase (GALT) deficiency was the first disorder added to the pioneering newborn screening panel besides phenylketonuria. In the last 50 years, many criticisms have been fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f35ab2c087a6ace3e2bb5f06e2d19e25
https://doi.org/10.1007/s12519-015-0017-3
https://doi.org/10.1007/s12519-015-0017-3
Publikováno v:
Galle Medical Journal. 24:11
Introduction: Glucose-6-phosphate dehydrogenase (G6PD) deficiency affects over 400 million individuals worldwide and commonly found in Asia and in the Mediterranean region. This study was aimed to assess the feasibility of incorporating G6PD screenin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8819c51f7d596fe32b59e5eade71b1c9
https://doi.org/10.4038/gmj.v24i2.7994
https://doi.org/10.4038/gmj.v24i2.7994