Literature DB >> 16494802

[Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency].

Frodi Joensen1, Elisabeth Ulrike Steuerwald, Niels H Rasmussen.   

Abstract

The Faeroe Islands has a high incidence of glycogen storage disease type III A, carnitine transporter deficiency and holocarboxylase synthetase deficiency. In the article the incidence, symptoms and gene mutations for these three inborn errors of metabolism are reviewed both in general and in specific for children in the Faeroe Islands. None of the mutations for the three diseases is particularly frequent, but all children in the Faeroe Islands with one of the three metabolic diseases are homozygous for one specific mutation, which must be due to a founder effect.

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Year:  2006        PMID: 16494802

Source DB:  PubMed          Journal:  Ugeskr Laeger        ISSN: 0041-5782


  2 in total

1.  Whole-exome sequencing of individuals from an isolated population implicates rare risk variants in bipolar disorder.

Authors:  F Lescai; T D Als; Q Li; M Nyegaard; G Andorsdottir; M Biskopstø; A Hedemand; A Fiorentino; N O'Brien; A Jarram; J Liang; J Grove; J Pallesen; E Eickhardt; M Mattheisen; L Bolund; D Demontis; A G Wang; A McQuillin; O Mors; J Wang; A D Børglum
Journal:  Transl Psychiatry       Date:  2017-02-14       Impact factor: 6.222

2.  Semen quality and reproductive hormones in Faroese men: a cross-sectional population-based study of 481 men.

Authors:  Jónrit Halling; Maria Skaalum Petersen; Niels Jørgensen; Tina Kold Jensen; Philippe Grandjean; Pál Weihe
Journal:  BMJ Open       Date:  2013-03-01       Impact factor: 2.692

  2 in total

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