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Items: 17

1.

Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria.

DiMauro S, Dalakas M, Miranda AF.

Ann Neurol. 1983 Jan;13(1):11-9.

PMID:
6830158
2.

Tarui disease and distal glycogenoses: clinical and genetic update.

Toscano A, Musumeci O.

Acta Myol. 2007 Oct;26(2):105-7. Review.

3.

Metabolic myopathies.

Tein I.

Semin Pediatr Neurol. 1996 Jun;3(2):59-98. Review.

PMID:
8795843
4.

PGK deficiency.

Beutler E.

Br J Haematol. 2007 Jan;136(1):3-11. Review.

PMID:
17222195
5.
6.

[Hereditary defects of glycogenolysis and glycolysis enzymes in neuromuscular diseases (a review)].

Rozenfel'd EL, Popova IA.

Zh Nevropatol Psikhiatr Im S S Korsakova. 1988;88(11):115-22. Review. Russian. No abstract available.

PMID:
2851906
7.

Disorders of glycogen metabolism of muscle.

Servidei S, DiMauro S.

Neurol Clin. 1989 Feb;7(1):159-78. Review.

PMID:
2646520
8.

Neonatal metabolic myopathies.

Tein I.

Semin Perinatol. 1999 Apr;23(2):125-51. Review.

PMID:
10331465
9.

A novel missense mutation (1060G --> C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis.

Morimoto A, Ueda I, Hirashima Y, Sawai Y, Usuku T, Kano G, Kuriyama K, Todo S, Sugimoto T, Kanno H, Fujii H, Imashuku S.

Br J Haematol. 2003 Sep;122(6):1009-13. Review.

PMID:
12956773
10.

[Exercise intolerance caused by muscular phosphorylase kinase deficiency. Contribution of in vivo metabolic studies].

Laforêt P, Eymard B, Lombès A, Duboc D, Jehenson P, Rocchiccioli F, Chaussain M, Chateau D, Brunet P, Fardeau M.

Rev Neurol (Paris). 1996 Jun-Jul;152(6-7):458-64. Review. French.

PMID:
8944243
11.

Recurrent childhood myoglobinuria.

Tein I, DiMauro S, DeVivo DC.

Adv Pediatr. 1990;37:77-117. Review.

PMID:
2264536
12.
13.

Exercise intolerance and the mitochondrial respiratory chain.

DiMauro S.

Ital J Neurol Sci. 1999 Dec;20(6):387-93. Review.

PMID:
10937858
14.

[Rhabdomyolysis and myoglobinuria].

Lindner A, Zierz S.

Nervenarzt. 2003 Jun;74(6):505-15. Epub 2003 May 14. Review. German.

PMID:
12799789
15.

[A case of adult onset phosphoglucomutase deficiency].

Nakashima H, Suo H, Ochiai J, Sugie H, Kawamura Y.

Rinsho Shinkeigaku. 1992 Jan;32(1):42-7. Review. Japanese.

PMID:
1385770
16.

Metabolic Myoglobinuria.

Barca E, Emmanuele V, DiMauro SB.

Curr Neurol Neurosci Rep. 2015 Oct;15(10):69. doi: 10.1007/s11910-015-0590-9. Review.

PMID:
26319173
17.

[Recurrent myoglobinuria].

Inoue Y.

Nihon Rinsho. 2002 Apr;60 Suppl 4:357-62. Review. Japanese. No abstract available.

PMID:
12013886
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