Literature DB >> 9836702

Newborn screening by tandem mass spectrometry: a new era.

H L Levy.   

Abstract

Mesh：

Year:  1998        PMID： 9836702

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  13 in total

1.  The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

Authors:  M R Baumgartner; S Almashanu; T Suormala; C Obie; R N Cole; S Packman; E R Baumgartner; D Valle
Journal:  J Clin Invest       Date:  2001-02       Impact factor: 14.808

Review 2.  Data required for the evaluation of newborn screening programmes.

Authors:  Bernhard Liebl; Uta Nennstiel-Ratzel; Adelbert Roscher; Rüdiger von Kries
Journal:  Eur J Pediatr       Date:  2003-11-13       Impact factor: 3.183

3.  Parental views on informed consent for expanded newborn screening.

Authors:  Louise Moody; Kubra Choudhry
Journal:  Health Expect       Date:  2011-08-12       Impact factor: 3.377

Review 4.  Newborn Screening for Lysosomal Storage Disorders.

Authors:  Roy W A Peake; Olaf A Bodamer
Journal:  J Pediatr Genet       Date:  2016-12-02

Review 5.  Garrod's foresight; our hindsight.

Authors:  C R Scriver
Journal:  J Inherit Metab Dis       Date:  2001-04       Impact factor: 4.982

6.  A rapid screening procedure for the diagnosis of peroxisomal disorders: quantification of very long-chain fatty acids, as dimethylaminoethyl esters, in plasma and blood spots, by electrospray tandem mass spectrometry.

Authors:  D W Johnson
Journal:  J Inherit Metab Dis       Date:  2000-07       Impact factor: 4.982

7.  Neonatal screening for congenital hypothyroidism and phenylketonuria in China.

Authors:  Jian-Ying Zhan; Yu-Feng Qin; Zheng-Yan Zhao
Journal:  World J Pediatr       Date:  2009-07-09       Impact factor: 2.764

8.  Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany.

Authors:  Georg F Hoffmann; Rüdiger von Kries; Daniela Klose; Martin Lindner; Andreas Schulze; Ania C Muntau; Wulf Röschinger; Bernhard Liebl; Ertan Mayatepek; Adelbert A Roscher
Journal:  Eur J Pediatr       Date:  2004-01-09       Impact factor: 3.183

9.  Newborn Screening in Slovenia.

Authors:  Andraž Šmon; Urh Grošelj; Mojca Žerjav Tanšek; Ajda Biček; Adrijana Oblak; Mirjana Zupančič; Ciril Kržišnik; Barbka Repič Lampr Et; Simona Murko; Sergej Hojker; Tadej Battelino
Journal:  Zdr Varst       Date:  2015-03-13

10.  Targeted next generation sequencing for newborn screening of Menkes disease.

Authors:  Richard B Parad; Stephen G Kaler; Evan Mauceli; Tanya Sokolsky; Ling Yi; Arindam Bhattacharjee
Journal:  Mol Genet Metab Rep       Date:  2020-07-21
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