Literature DB >> 8828599

The introduction of newborn screening for phenylketonuria. A personal history.

R Guthrie1.   

Abstract

Entities:  

Mesh：

Year:  1996        PMID： 8828599     DOI： 10.1007/pl00014247

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


× No keyword cloud information.
  1 in total

1.  A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.

Authors:  R GUTHRIE; A SUSI
Journal:  Pediatrics       Date:  1963-09       Impact factor: 7.124
  1 in total
  9 in total

1.  Characterization of 2-(methylamino)alkanoic acid capacity to restrict blood-brain phenylalanine transport in Pah enu2 mice: preliminary findings.

Authors:  Kara R Vogel; Erland Arning; Brandi L Wasek; Teodoro Bottiglieri; K Michael Gibson
Journal:  Mol Genet Metab       Date:  2013-08-15       Impact factor: 4.797

2.  Executive function in treated phenylketonuria as measured by the one-back and two-back versions of the continuous performance test.

Authors:  P Griffiths; R Campbell; P Robinson
Journal:  J Inherit Metab Dis       Date:  1998-04       Impact factor: 4.982

Review 3.  Newborn screening for lysosomal storage disorders and other neuronopathic conditions.

Authors:  Dietrich Matern; Devin Oglesbee; Silvia Tortorelli
Journal:  Dev Disabil Res Rev       Date:  2013

4.  Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency.

Authors:  Sabrina Forni; Phillip L Pearl; K Michael Gibson; Yuezhou Yu; Lawrence Sweetman
Journal:  Mol Genet Metab       Date:  2013-05-10       Impact factor: 4.797

Review 5.  State-of-the-art 2003 on PKU gene therapy.

Authors:  Zhaobing Ding; Cary O Harding; Beat Thöny
Journal:  Mol Genet Metab       Date:  2004-01       Impact factor: 4.797

6.  Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria.

Authors:  Alexandre Rebuffat; Cary O Harding; Zhaobing Ding; Beat Thöny
Journal:  Hum Gene Ther       Date:  2010-04       Impact factor: 5.695

Review 7.  Newborn Screening Samples for Diabetes Research: An Underused Resource.

Authors:  Jane Frances Grace Lustre Estrella; Jincy Immanuel; Veronica Wiley; David Simmons
Journal:  Cells       Date:  2020-10-15       Impact factor: 6.600

8.  Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).

Authors:  Andrea Martin-Nalda; Anna M Cueto-González; Ana Argudo-Ramírez; Jose L Marin-Soria; Monica Martinez-Gallo; Roger Colobran; Albert Plaja; Neus Castells; Jacques Riviere; Eduardo F Tizzano; Pere Soler-Palacin
Journal:  Mol Genet Genomic Med       Date:  2019-10-30       Impact factor: 2.183

Review 9.  The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health.

Authors:  Audrey C Woerner; Renata C Gallagher; Jerry Vockley; Aashish N Adhikari
Journal:  Front Pediatr       Date:  2021-07-19       Impact factor: 3.418
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.