Literature DB >> 7671962

Newborn mass screening for galactosemia.

S Schweitzer1.   

Abstract

Methods for mass screening of newborns for galactosemia have been available since 1964. Although galactosemia is rare, many countries have included screening for galactosemia in their national screening programs, yet other countries deny the necessity for screening. Despite the early appearance of clinical symptoms, newborns may be reliably diagnosed in time only through mass screening.

Entities:  

Mesh:

Year:  1995        PMID: 7671962     DOI: 10.1007/bf02143801

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


  12 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

2.  A NEW METHOD FOR THE DETECTION OF GALACTOXEMIA AND ITS CARRIER STATE.

Authors:  E BEUTLER; M BALUDA; G N DONNELL
Journal:  J Lab Clin Med       Date:  1964-10

3.  Galactosemia--to screen or not to screen?

Authors:  T W Hansen; S O Lie
Journal:  Pediatrics       Date:  1988-02       Impact factor: 7.124

4.  A simple spot screening test for galactosemia.

Authors:  E Beutler; M C Baluda
Journal:  J Lab Clin Med       Date:  1966-07

5.  Estimation of galactose-I-phosphate in erythrocytes: a rapid and simple enzymatic method.

Authors:  R Gitzelmann
Journal:  Clin Chim Acta       Date:  1969-11       Impact factor: 3.786

6.  Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90.

Authors:  M M Honeyman; A Green; J B Holton; J V Leonard
Journal:  Arch Dis Child       Date:  1993-09       Impact factor: 3.791

7.  False-postive galactomsaemia screening.

Authors:  R Schön; O Thalhammer
Journal:  Lancet       Date:  1977-01-01       Impact factor: 79.321

8.  Colorimetric determination of galactose and galactose-1-phosphate from dried blood.

Authors:  F Diepenbrock; R Heckler; H Schickling; T Engelhard; D Bock; J Sander
Journal:  Clin Biochem       Date:  1992-02       Impact factor: 3.281

9.  A new method of screening for inherited disorders of galactose metabolism.

Authors:  K Paigen; F Pacholec; H L Levy
Journal:  J Lab Clin Med       Date:  1982-06

10.  Newborn screening for galactosemia: a new method used in Manitoba.

Authors:  C R Greenberg; L A Dilling; R Thompson; J D Ford; L E Seargeant; J C Haworth
Journal:  Pediatrics       Date:  1989-08       Impact factor: 7.124

View more
  5 in total

1.  Incidence and features of galactosaemia in Saudi Arabs.

Authors:  H Moammar; R Ratard; G Cheriyan; P Mathew
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  Newborn screening for galactosemia: a 30-year single center experience.

Authors:  Francesco Porta; Severo Pagliardini; Veronica Pagliardini; Alberto Ponzone; Marco Spada
Journal:  World J Pediatr       Date:  2015-03-09       Impact factor: 2.764

3.  Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.

Authors:  Patricia P Jumbo-Lucioni; Kathryn Garber; John Kiel; Ivo Baric; Gerard T Berry; Annet Bosch; Alberto Burlina; Ana Chiesa; Maria Luz Couce Pico; Sylvia C Estrada; Howard Henderson; Nancy Leslie; Nicola Longo; Andrew A M Morris; Carlett Ramirez-Farias; Susanne Schweitzer-Krantz; Susanne Scheweitzer-Krantz; Catherine Lynn T Silao; Marcela Vela-Amieva; Susan Waisbren; Judith L Fridovich-Keil
Journal:  J Inherit Metab Dis       Date:  2012-03-27       Impact factor: 4.982

4.  Clinical, molecular, and genetic evaluation of galactosemia in Turkish children.

Authors:  Sezen Ugan Atik; Semra Gürsoy; Tuba Koçkar; Hasan Önal; Servet Erdal Adal
Journal:  Turk Pediatri Ars       Date:  2016-12-01

Review 5.  Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia.

Authors:  Susanne Schweitzer-Krantz
Journal:  Eur J Pediatr       Date:  2003-11-12       Impact factor: 3.183

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.