Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 40

1.

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways.

Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):10-8. Review.

PMID:
11001791
2.

Recent developments in the investigation of inherited metabolic disorders using cultured human cells.

Roe CR, Roe DS.

Mol Genet Metab. 1999 Oct;68(2):243-57. Review.

PMID:
10527676
3.

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.

Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P.

Hum Mutat. 2001 Sep;18(3):169-89. Review.

PMID:
11524729
4.

Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.

Sigauke E, Rakheja D, Kitson K, Bennett MJ.

Lab Invest. 2003 Nov;83(11):1543-54. Review.

PMID:
14615409
5.

Metabolic myopathies.

Bosch EP, Munsat TL.

Med Clin North Am. 1979 Jul;63(4):759-82. Review. No abstract available.

PMID:
157414
6.

[Changes in carnitine metabolism. A case report about probable partial deficiency of muscle carnitine palmitoyltransferase].

De Prà M, Oberti F, De Benedittis A.

Pediatr Med Chir. 1990 Jul-Aug;12(4):397-403. Review. Italian.

PMID:
2075107
7.

Neurological diseases in disorders of organic acids.

Marsden DL, Nyhan WL.

Curr Opin Neurol Neurosurg. 1992 Jun;5(3):349-54. Review.

PMID:
1623263
8.

[Rhabdomyolysis and myoglobinuria].

Lindner A, Zierz S.

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

PMID:
12799789
9.

[Metabolic myopathies].

Papazian Ó, Rivas-Chacón R.

Rev Neurol. 2013 Sep 6;57 Suppl 1:S65-73. Review. Spanish.

11.

[Lipidic myopathies].

Muñoz-Blanco JL.

Rev Neurol. 1998 Apr;26 Suppl 1:S72-80. Review. Spanish.

PMID:
9810593
12.

[Metabolic myopathies - an overview].

Lammens M, Schoser B.

Pathologe. 2009 Sep;30(5):370-8. doi: 10.1007/s00292-009-1170-z. Review. German.

PMID:
19633854
13.

Metabolic myopathies.

Wortmann RL.

Curr Opin Rheumatol. 1991 Dec;3(6):925-33. Review.

PMID:
1772746
14.

Multiple genotypes, multiple phenotypes, and partial defects.

Kark RA, Becker DM.

Muscle Nerve. 1981 Jan-Feb;4(1):31-40. Review.

PMID:
7015120
15.

Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency.

Gross M.

J Inherit Metab Dis. 1997 Jun;20(2):186-92. Review.

PMID:
9211191
16.

Impact of selected inborn errors of metabolism on prenatal and neonatal development.

Illsinger S, Das AM.

IUBMB Life. 2010 Jun;62(6):403-13. doi: 10.1002/iub.336. Review.

17.

Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases.

Vockley J.

J Inherit Metab Dis. 2008 Oct;31(5):619-29. doi: 10.1007/s10545-008-1005-8. Epub 2008 Oct 5. Review.

18.

Biochemistry and molecular genetics of muscle diseases.

Deufel T, Gerbitz KD.

Eur J Clin Chem Clin Biochem. 1991 Jan;29(1):13-38. Review.

PMID:
2049471
19.

Review: Metabolic cardiomyopathy and conduction system defects in children.

Gilbert-Barness E.

Ann Clin Lab Sci. 2004 Winter;34(1):15-34. Review.

PMID:
15038665
20.

Metabolic myopathies: a guide and update for clinicians.

Burr ML, Roos JC, Ostör AJ.

Curr Opin Rheumatol. 2008 Nov;20(6):639-47. doi: 10.1097/BOR.0b013e328315a05b. Review.

PMID:
18946322

Supplemental Content

Support Center