Muscle biochemistry in thiamin-responsive anaemia-Reference-Cited by-同舟云学术

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Muscle biochemistry in thiamin-responsive anaemia

Published:1997-07 Issue:3 Volume:20 Page:404-406
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Barrett T. G.¹,Poulton K.²,Baines M.³,McCowen C.⁴

Affiliation:

1. ; Department of Clinical Genetics; Birmingham Womens' Hospital NHS Trust; Birmingham UK

2. ; Department of Neuropathology, The Medical School; University of Birmingham; UK

3. ; Department of Clinical Chemistry; Royal Liverpool and Broadgreen University Hospitals NHS Trust; Liverpool UK

4. Department of Paediatrics; North Tees General Hospital, Hardwick, Stockton on Tees; Cleveland UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005302717117/fullpdf

Reference8 articles.

1. Analysis of mitochondrial function with techniques applicable to needle muscle biopsy samples;Gohil;Clin Physiol,1981

2. Thiamin responsive anaemia: a study of two further cases;Haworth;Br Haematol,1982

3. A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria;Kohlschutter;Eur J Paediatr,1982

4. Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia;Rindi;J Inher Metab Dis,1994

5. Thiamine-responsive megaloblastic anemia;Rogers;J Pediatr,1969

Cited by 11 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. Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia;Clinica Chimica Acta;2021-05

2. Incidence and characteristics of childhood- and youth-onset diabetes in the Qalandarabad area in northern Pakistan;Diabetes Research and Clinical Practice;2020-05

3. Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 ( SLC19A2 ) mutation;Journal of Diabetes;2017-05-29

4. Thiamine-responsive megaloblastic anaemia syndrome: Long-term follow-up and mutation analysis of seven families;Acta Paediatrica;2007-01-02

5. Thiamine-responsive megaloblastic anaemia syndrome: Long-term follow-up and mutation analysis of seven families;Acta Paediatrica;2006-01-01

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