Literature DB >> 1413809

[25 years Austrian screening program for inborn errors of metabolism at the Vienna University].

K Widhalm1.   

Abstract

The results are presented by the Austrian screening program for inborn errors of metabolism, which is one of the oldest and most comprehensive in the world. At present, the program comprises screening for the following diseases: phenylketonuria, galactosemia, homocystinuria, maple syrup urine disease, hypothyroidism, biotinidase deficiency. The results of the program with regard to diagnosed cases are presented: in total, 747 carriers of various inborn errors of metabolism have been detected by means of the Screening Program and were referred for therapy where appropriate.

Entities:  

Mesh:

Year:  1992        PMID: 1413809

Source DB:  PubMed          Journal:  Wien Klin Wochenschr        ISSN: 0043-5325            Impact factor:   1.704


  1 in total

1.  The significance of opthalmologic evaluation in the early diagnosis of inborn errors of metabolism: the Cretan experience.

Authors:  Daria P Tsagaraki; Athanasios E Evangeliou; Miltiadis Tsilimbaris; Martha G Spilioti; Eleni P Mihailidou; Christos Lionis; Ioannis Pallikaris
Journal:  BMC Ophthalmol       Date:  2002-04-11       Impact factor: 2.209

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.