3-Methylcrotonyl CoA carboxylase deficiency/3-methylcrotonyl glycinuria

[1]  J. Fletcher,et al.  Newborn screening for 3‐methylcrotonyl‐CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment , 2006, Human Mutation.

[2]  M. Baumgartner,et al.  Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. , 2004, American journal of human genetics.

[3]  W. Nyhan,et al.  Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. , 2001, Human molecular genetics.

[4]  M. Baumgartner,et al.  The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. , 2001, The Journal of clinical investigation.

[5]  D. Morton,et al.  The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. , 2001, American journal of human genetics.

[6]  D. Morton,et al.  3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. , 1998, The Journal of pediatrics.

[7]  D. Millington,et al.  3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency , 1995, Journal of Inherited Metabolic Disease.

[8]  T. Suormala,et al.  Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology , 1995, Journal of Inherited Metabolic Disease.

[9]  R. Heidenreich,et al.  Benign clinical presentation of 3-methylcrotonylglycinuria , 1995, Journal of Inherited Metabolic Disease.

[10]  M. Tuchman,et al.  Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia. , 1993, Pediatrics.

[11]  T. Suormala,et al.  Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome , 1992, Journal of Inherited Metabolic Disease.

[12]  O. Elpeleg,et al.  Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency. , 1992, The Journal of pediatrics.

[13]  R. Pollitt,et al.  Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness , 1989, Journal of Inherited Metabolic Disease.

[14]  D. D. Johnson,et al.  Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency. , 1989, The Journal of pediatrics.

[15]  T. Suormala,et al.  Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency presenting at age 20 months with sopor, hypoglycaemia and ketoacidosis , 1987, Journal of Inherited Metabolic Disease.

[16]  M. Bennett,et al.  Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia , 1984, Journal of Inherited Metabolic Disease.

[17]  W. Nyhan,et al.  Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria. , 1977, Clinica chimica acta; international journal of clinical chemistry.

[18]  M. Finnie,et al.  Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with a deficiency of 3-methylcrotonyl-CoA carboxylase. , 1976, Clinica chimica acta; international journal of clinical chemistry.

[19]  W. Nyhan,et al.  Inheritable biotin-treatable disorders and associated phenomena. , 1986, Annual review of nutrition.