TY - JOUR AU - Faull, K. AU - Bolton, P. AU - Halpern, B. PY - 1976 DA - 1976// TI - Patient with defect in leucine catabolism JO - N Engl J Med VL - 294 ID - Faull1976 ER - TY - JOUR AU - Santarelli, F. AU - Cassanello, M. AU - Enea, A. PY - 2013 DA - 2013// TI - A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency JO - Ital J Pediatr VL - 39 UR - https://doi.org/10.1186/1824-7288-39-33 DO - 10.1186/1824-7288-39-33 ID - Santarelli2013 ER - TY - JOUR AU - Zafeiriou, D. I. AU - Vargiami, E. AU - Mayapetek, E. AU - Augoustidou-Savvopoulou, P. AU - Mitchell, G. A. PY - 2007 DA - 2007// TI - 3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency with reversible white matter changes after treatment JO - Pediatr Neurol VL - 37 UR - https://doi.org/10.1016/j.pediatrneurol.2007.02.007 DO - 10.1016/j.pediatrneurol.2007.02.007 ID - Zafeiriou2007 ER - TY - JOUR AU - Santos, M. M. AU - Ribas, G. S. AU - Wayhs, C. A. PY - 2015 DA - 2015// TI - Increased oxidative stress in patients with 3-hydroxy-3-methylglutaric aciduria JO - Mol Cell Biochem VL - 402 UR - https://doi.org/10.1007/s11010-014-2322-x DO - 10.1007/s11010-014-2322-x ID - Santos2015 ER - TY - JOUR AU - Reimao, S. AU - Morgado, C. AU - Almeida, I. T. AU - Silva, M. AU - Real, H. C. AU - Campos, J. PY - 2009 DA - 2009// TI - 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Initial presentation in a young adult JO - J Inherit Metab Dis VL - 32 UR - https://doi.org/10.1007/s10545-009-1048-5 DO - 10.1007/s10545-009-1048-5 ID - Reimao2009 ER - TY - JOUR AU - Leipnitz, G. AU - Regla Vargas, C. AU - Wajener, M. PY - 2015 DA - 2015// TI - Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency JO - J Inherit Metab Dis VL - 38 UR - https://doi.org/10.1007/s10545-015-9863-3 DO - 10.1007/s10545-015-9863-3 ID - Leipnitz2015 ER - TY - JOUR AU - Pié, J. AU - Casals, N. AU - Casale, C. H. PY - 1997 DA - 1997// TI - A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hidroxy-3-methylglutaryl-CoA lyase deficiency JO - Biochem J VL - 323 UR - https://doi.org/10.1042/bj3230329 DO - 10.1042/bj3230329 ID - Pié1997 ER - TY - JOUR AU - Mir, C. AU - Lopez-Viñas, E. AU - Aledo, R. PY - 2006 DA - 2006// TI - A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase JO - J Inherit Metab Dis VL - 29 UR - https://doi.org/10.1007/s10545-006-0138-x DO - 10.1007/s10545-006-0138-x ID - Mir2006 ER - TY - JOUR AU - Pierron, S. AU - Giudicelli, H. AU - Moreigne, M. PY - 2010 DA - 2010// TI - Déficit en 3-HMG-CoA lyase à révélation tardive: savoir reconnaitre une maladie rare mais traitable JO - Arch Pediatr VL - 17 UR - https://doi.org/10.1016/j.arcped.2009.09.022 DO - 10.1016/j.arcped.2009.09.022 ID - Pierron2010 ER - TY - JOUR AU - Gibson, K. M. AU - Breuer, J. AU - Nyhan, W. L. PY - 1988 DA - 1988// TI - 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients JO - Eur J Pediatr VL - 148 UR - https://doi.org/10.1007/BF00441397 DO - 10.1007/BF00441397 ID - Gibson1988 ER - TY - JOUR AU - Muroi, J. AU - Yorifuji, J. T. AU - Uematsu, A. AU - Nakajata, T. PY - 2000 DA - 2000// TI - Cerebral infarction and pancreatitis: possible complications of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency JO - J Inherit Metab Dis VL - 23 UR - https://doi.org/10.1023/A:1005642316174 DO - 10.1023/A:1005642316174 ID - Muroi2000 ER - TY - JOUR AU - Huemer, M. AU - Muehl, A. AU - Wandl-Vergesslich, K. AU - Strobl, W. AU - Wanders, R. J. AU - Stoeckler-Ipsiroglu, S. PY - 1998 DA - 1998// TI - Stroke-like encephalopathy in an infant with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency JO - Eur J Pediatr VL - 157 UR - https://doi.org/10.1007/s004310050927 DO - 10.1007/s004310050927 ID - Huemer1998 ER -