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1971
2025

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Year Number of Results
1971 1
1987 1
1990 3
1994 1
1996 2
1999 2
2000 1
2001 3
2002 4
2003 1
2006 1
2010 1
2012 1
2013 3
2014 1
2015 2
2016 1
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2025 0

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29 results

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Page 1
Metabolic Myoglobinuria.
Barca E, Emmanuele V, DiMauro SB. Barca E, et al. Curr Neurol Neurosci Rep. 2015 Oct;15(10):69. doi: 10.1007/s11910-015-0590-9. Curr Neurol Neurosci Rep. 2015. PMID: 26319173 Review.
One large group of hereditary myopathies characterized by recurrent myoglobinuria, almost invariably triggered by exercise, comprises metabolic disorders of two main fuels, glycogen and long-chain fatty acids, or mitochondrial diseases of the respiratory chain. ...
One large group of hereditary myopathies characterized by recurrent myoglobinuria, almost invariably triggered by exercise, co …
Muscle glycogenoses.
DiMauro S, Lamperti C. DiMauro S, et al. Muscle Nerve. 2001 Aug;24(8):984-99. doi: 10.1002/mus.1103. Muscle Nerve. 2001. PMID: 11439374 Review.
There are 11 hereditary disorders of glycogen metabolism affecting muscle alone or together with other tissues, and they cause two main clinical syndromes: episodic, recurrent exercise intolerance with cramps, myalgia, and myoglobinuria; or fixed, often progressive …
There are 11 hereditary disorders of glycogen metabolism affecting muscle alone or together with other tissues, and they cause two main clin …
Recurrent childhood myoglobinuria.
Tein I, DiMauro S, DeVivo DC. Tein I, et al. Adv Pediatr. 1990;37:77-117. Adv Pediatr. 1990. PMID: 2264536 Review.
Recurrent heritable childhood myoglobinuria is a potentially fatal entity (mortality up to 35%) in which prompt diagnosis and treatment are critical. ...We have found important differences between the childhood and adult-onset cases. Of 77 cases of adult-onset re
Recurrent heritable childhood myoglobinuria is a potentially fatal entity (mortality up to 35%) in which prompt diagnosis and
Mitochondrial myopathies.
DiMauro S. DiMauro S. Curr Opin Rheumatol. 2006 Nov;18(6):636-41. doi: 10.1097/01.bor.0000245729.17759.f2. Curr Opin Rheumatol. 2006. PMID: 17053512 Review.
SUMMARY: Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle, causing exercise intolerance, cramps, recurrent myoglobinuria, or fixed weakness, which often affects extraocular muscles and results in d …
SUMMARY: Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle, causing exer …
Metabolic myopathies.
Tein I. Tein I. Semin Pediatr Neurol. 1996 Jun;3(2):59-98. doi: 10.1016/s1071-9091(96)80038-6. Semin Pediatr Neurol. 1996. PMID: 8795843 Review.
Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; long- and very-long-chain acyl-CoA dehydrogenase (LCAD, V …
Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, acid ma …
Rhabdomyolysis: a review.
Warren JD, Blumbergs PC, Thompson PD. Warren JD, et al. Muscle Nerve. 2002 Mar;25(3):332-47. doi: 10.1002/mus.10053. Muscle Nerve. 2002. PMID: 11870710 Review.
Rhabdomyolysis, a syndrome of skeletal muscle breakdown with leakage of muscle contents, is frequently accompanied by myoglobinuria, and if sufficiently severe, acute renal failure with potentially life-threatening metabolic derangements may ensue. ...Recent advances in mo …
Rhabdomyolysis, a syndrome of skeletal muscle breakdown with leakage of muscle contents, is frequently accompanied by myoglobinuria, …
Rhabdomyolysis: a genetic perspective.
Scalco RS, Gardiner AR, Pitceathly RD, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R. Scalco RS, et al. Orphanet J Rare Dis. 2015 May 2;10:51. doi: 10.1186/s13023-015-0264-3. Orphanet J Rare Dis. 2015. PMID: 25929793 Free PMC article. Review.
Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure. Apart from trauma, a wide range of causes …
Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components …
[Rhabdomyolysis and myoglobinuria].
Lindner A, Zierz S. Lindner A, et al. Nervenarzt. 2003 Jun;74(6):505-15. doi: 10.1007/s00115-003-1518-1. Epub 2003 May 14. Nervenarzt. 2003. PMID: 12799789 Review. German.
Rhabdomyolysis is a disorder characterized by acute damage of the sarcolemma of the skeletal muscle leading to release of potentially toxic muscle cell components into the circulation, most notably creatine phosphokinase (CK) and myoglobin, and is frequently accompanied by myo
Rhabdomyolysis is a disorder characterized by acute damage of the sarcolemma of the skeletal muscle leading to release of potentially toxic …
Idiopathic rhabdomyolysis.
Savage DC, Forbes M, Pearce GW. Savage DC, et al. Arch Dis Child. 1971 Oct;46(249):594-607. doi: 10.1136/adc.46.249.594. Arch Dis Child. 1971. PMID: 4107384 Free PMC article. Review.
The second child recovered; an intracellulr granular material of unknown nature was seen in his muscle biopsy on electron microscopy. The literature of idiopathic recurrent rhabdomyolysis occurring in childhood is reviewed....
The second child recovered; an intracellulr granular material of unknown nature was seen in his muscle biopsy on electron microscopy. The li …
Diagnostic challenges in metabolic myopathies.
Angelini C, Marozzo R, Pegoraro V, Sacconi S. Angelini C, et al. Expert Rev Neurother. 2020 Dec;20(12):1287-1298. doi: 10.1080/14737175.2020.1825943. Epub 2020 Oct 4. Expert Rev Neurother. 2020. PMID: 32941087 Review.
To suspect in adults these disorders, clinical features such as exercise intolerance and recurrent myoglobinuria need investigation while another group presents fixed weakness and cardiomyopathy as a clinical pattern. ...
To suspect in adults these disorders, clinical features such as exercise intolerance and recurrent myoglobinuria need investig …
29 results