3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/3-540-27660-2_41
Reference20 articles.
1. Bakker HD, Wanders RJA, Schutgens RBH, Abeling NGGM, van Gennip AH. 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: absence of clinical symptoms due to a self-imposed dietary fat and protein restriction. J Inherit Metab Dis 1993; 16: 1061–1062
2. Ferris JN, Tien RD. Cerebral MRI in 3-hydroxy-3-methylglutarylcoenzyme A lyase deficiency: case report. Neuroradiology 1993; 35: 559–560
3. Gibson KM, Breuer J, Kaiser K, Nyhan WL, McCoy EE, Ferreira P, Greene CL, Blitzer MG, Shapira E, Reverte F, Conde C, Bagnell P, Cole DEC. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients. J Inherit Metab Dis 1988; 11: 76–87
4. Gibson KM, Breuer J, Nyhan WL. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients. Eur J Pediatr 1988: 148: 180–186
5. Gibson KM, Cassidy SB, Seaver LH, Wanders RJA, Kennaway NG, Mitchell GA, Sprak RP. Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. J Inherit Metab Dis 1994: 17: 291–294
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1. 3 Hydroxy 3 Methyl Glutaryl CoA Lyase Deficiency;Genetic Syndromes;2023
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