Myopathy with altered mitochondria due to a triosephosphate isomerase (TPI) deficiency

Author:

Bardosi A.,Eber S. W.,Hendrys M.,Pekrum A.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Reference19 articles.

1. Bardosi A, Eber SW, Roessmann U (1985) Ultrastructural and histochemical abnormalities of skeletal muscle in a patient with a new variant (type Homburg) of glucosephosphate isomerase (GPI) deficiency. Clin Neuropathol 4:72?76

2. Bardosi A, Creuizfeldt W, DiMauro S, Felgenhauer K, Friede RL, Goebel HH, Kohlschütter A, Mayer G, Rahlf G, Servidei S, Van Lessen G, Wetterling T (1987) Myoneuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome c oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol (Berl) 74:248?258

3. Bücher T, Luh W, Pette D (1964) Einfache und zusammengesetzte optische Tests mit Pyridinnucleotiden. In: Hoppe-Seyler F, Thierfelder H (eds) Handbuch der physiologisch-chemischen und pathologisch-chemischen Analyse, vol 6. Springer, Berlin, pp 292?339

4. Clark ACL, Szobolotzky MA (1986) Triose phosphate isomerase deficiency: report of a family. Aust Paediatr J 22:135?137

5. Clay SA, Shore NA, Landing BH (1982) Triosephosphate isomerase deficiency. A case report with neuropathological findings. Am J Dis Child 139:800?802

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