Heterogeneity of disease‐causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants-Reference-Cited by-同舟云学术

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Heterogeneity of disease‐causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants

Published:2019-08-12 Issue:5 Volume:42 Page:1008-1018
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Ohlsson Annika¹²^ORCID,Hunt Mary³,Wedell Anna¹⁴,Döbeln Ulrika¹²

Affiliation:

1. Centre for Inherited Metabolic Diseases (CMMS)Karolinska University Hospital Stockholm Sweden

2. Department of Medical Biochemistry and BiophysicsKarolinska Institute Stockholm Sweden

3. The School of Biological and Health SciencesDublin Institute of Technology Dublin Ireland

4. Department of Molecular Medicine and SurgeryKarolinska Institute Stockholm Sweden

Funder

Karolinska Institutet

Stockholms Läns Landsting

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12136

Reference42 articles.

1. Biallelic GALM pathogenic variants cause a novel type of galactosemia

2. Galactosemia, a congenital defect in a nucleotide transferase

3. The natural history of classic galactosemia: lessons from the GalNet registry

4. Long-term prognosis in galactosaemia: Results of a survey of 350 cases

5. Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Classical Hereditary galactosemia: findings in patients and animal models;Metabolic Brain Disease;2023-09-13

2. Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review;Biology;2022-09-02

3. ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder;American Journal of Medical Genetics Part A;2020-10-28

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