Literature DB >> 1129019

[Congenital hemolytic anemia due to triosephosphate isomerase deficiency].

F Freycon, B Lauras, F Bovier-Lapierre, R Goddon.   

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Year:  1975        PMID: 1129019

Source DB:  PubMed          Journal:  Pediatrie        ISSN: 0031-4021


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  6 in total

1.  Prevalence of partial deficiency of red cell triosephosphate isomerase in Germany--a study of 3000 people.

Authors:  S W Eber; M Dünnwald; G Heinemann; T Hofstätter; H M Weinmann; B H Belohradsky
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

2.  Hereditary triose phosphate isomerase deficiency: seven new homozygous cases.

Authors:  R Rosa; M O Prehu; M C Calvin; J Badoual; D Alix; R Girod
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  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.

Authors:  S W Eber; A Pekrun; A Bardosi; M Gahr; W K Krietsch; J Krüger; R Matthei; W Schröter
Journal:  Eur J Pediatr       Date:  1991-09       Impact factor: 3.183

4.  Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease: familial and biochemical studies of a case found in Spain.

Authors:  J L Vives-Corrons; H Rubinson-Skala; M Mateo; J Estella; E Feliu; J C Dreyfus
Journal:  Hum Genet       Date:  1978-06-09       Impact factor: 4.132

5.  Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms.

Authors:  S Hollán; H Fujii; A Hirono; K Hirono; H Karro; S Miwa; V Harsányi; E Gyódi; M Inselt-Kovács
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132

6.  Human triosephosphate isomerase deficiency resulting from mutation of Phe-240.

Authors:  M L Chang; P J Artymiuk; X Wu; S Hollán; A Lammi; L E Maquat
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

  6 in total

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