Triosephosphate isomerase deficiency: Haemolytic anaemia, myopathy with altered mitochondria and mental retardation due to a new variant with accelerated enzyme catabolism and diminished specific activity-Reference-Cited by-同舟云学术

Triosephosphate isomerase deficiency: Haemolytic anaemia, myopathy with altered mitochondria and mental retardation due to a new variant with accelerated enzyme catabolism and diminished specific activity

Published:1991-09 Issue:11 Volume:150 Page:761-766
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Eber S. W.,Pekrun A.,Bardosi A.,Gahr M.,Krietsch W. K. G.,Krüger J.,Matthei R.,Schröter W.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/BF02026706.pdf

Reference32 articles.

1. Asakawa J-i, Jida S (1985) Origin of human triosephosphate isomerase isozymes: further evidence for the single structural locus hypothesis with Japanese variants. Hum Genet 71:22–26

2. Bardosi A, Eber SW, Hendrys M, Pekrun A (1990) Myopathy with altered mitochondria due to a triosephosphate isomerase (TPI) deficiency. Acta Neuropathol 79:387–394

3. Bücher T, Luh W, Pette D (1964) Einfache und zusammengesetzte optische Tests mit Pyridinnucleotiden. In: F. Hoppe-Seyler, H. Tierfelder (Hrsg) Handbuch der physiologisch-chemischen und pathologisch-chemischen Analyse. Springer, Berlin Heidelberg New York, pp 291–339

4. Burgemeister BB, Blum LH, Lorge I (1971) The Columbia mental maturity scale. In: Bondy C, Lohen R, Eggert D, Lüer G (eds) Testbatterien für geistig behinderte Kinder (TBGB). Beltz, Weinheim, pp 1–49

5. Clark ACL, Szobolotzky MA (1986) Triosephosphate isomerase deficiency: report of a family. Aust Paediatr J 22:135–137

Cited by 43 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. Neuromuscular dysfunction and pathogenesis in triosephosphate isomerase deficiency;Scientific Reports;2024-08-10

2. Triosephosphate isomerase deficiency in an infant;Journal of Translational and Practical Medicine;2022-09-30

3. Hereditary myopathies associated with hematological abnormalities;Muscle & Nerve;2022-01-05

4. Treatment and Management of Hereditary Metabolic Myopathies;Neuromuscular Disorders;2022

5. Effects of T‐2 toxin on the muscle proteins of shrimp ( Litopenaeus vannamei ) – a proteomics study;Journal of the Science of Food and Agriculture;2019-09-30