Recent advances in newborn screening for neurometabolic disorders

2004 ◽  
Vol 17 (2) ◽  
pp. 133-138 ◽  
Author(s):  
Martha D Carlson
2002 ◽  
Vol 32 (5) ◽  
pp. 144-172
Author(s):  
Gregory Goodwin ◽  
Michael E. Msall ◽  
Betty R. Vohr ◽  
Lewis P. Rubin ◽  
James Padbury

2021 ◽  
Vol 9 ◽  
Author(s):  
Yasemin Gokdemir ◽  
Bulent Taner Karadag

Cystic fibrosis (CF) is the most common fatal genetic disease of the Caucasian population. Sweat testing is the principal diagnostic test for CF, and it is used for the evaluation of infants with positive CF newborn screening (NBS) and in patients with clinical findings suggesting CF. This article describes the classical sweat test method in detail and also provides an overwiew of recent advances.


1988 ◽  
Vol 132 ◽  
pp. 525-530
Author(s):  
Raffaele G. Gratton

The use CCD detectors has allowed a major progress in abundance derivations for globular cluster stars in the last years. Abundances deduced from high dispersion spectra now correlates well with other abundance indicators. I discuss some problems concerning the derivation of accurate metal abundances for globular clusters using high dispersion spectra from both the old photographic and the most recent CCD data. The discrepant low abundances found by Cohen (1980), from photographic material for M71 giants, are found to be due to the use of too high microturbulences.


2020 ◽  
Vol 7 (8) ◽  
pp. 1022-1060 ◽  
Author(s):  
Wenbo Ma ◽  
Nikolaos Kaplaneris ◽  
Xinyue Fang ◽  
Linghui Gu ◽  
Ruhuai Mei ◽  
...  

This review summarizes recent advances in C–S and C–Se formations via transition metal-catalyzed C–H functionalization utilizing directing groups to control the site-selectivity.


2006 ◽  
Vol 73 ◽  
pp. 109-119 ◽  
Author(s):  
Chris Stockdale ◽  
Michael Bruno ◽  
Helder Ferreira ◽  
Elisa Garcia-Wilson ◽  
Nicola Wiechens ◽  
...  

In the 30 years since the discovery of the nucleosome, our picture of it has come into sharp focus. The recent high-resolution structures have provided a wealth of insight into the function of the nucleosome, but they are inherently static. Our current knowledge of how nucleosomes can be reconfigured dynamically is at a much earlier stage. Here, recent advances in the understanding of chromatin structure and dynamics are highlighted. The ways in which different modes of nucleosome reconfiguration are likely to influence each other are discussed, and some of the factors likely to regulate the dynamic properties of nucleosomes are considered.


ASHA Leader ◽  
2007 ◽  
Vol 12 (14) ◽  
pp. 1-6
Author(s):  
Dee Naquin Shafer
Keyword(s):  

1950 ◽  
Vol 34 (5) ◽  
pp. 1363-1380
Author(s):  
Theodore L. Badger ◽  
William E. Patton

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