Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

[1]  James Y. Zou.  Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[2]  G. Saigal,et al.  MRI of Pallidal Involvement in Beta‐Ketothiolase Deficiency , 2014, Journal of neuroimaging : official journal of the American Society of Neuroimaging.

[3]  K. Bhattacharya,et al.  Expanded newborn screening in New South Wales: missed cases , 2014, Journal of Inherited Metabolic Disease.

[4]  L. Lingappa,et al.  Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India , 2014, Brain and Development.

[5]  J. Sass,et al.  Ketone body metabolism and its defects , 2014, Journal of Inherited Metabolic Disease.

[6]  B. Soltani,et al.  First Report of 3-Oxothiolase Deficiency in Iran , 2014, International journal of endocrinology and metabolism.

[7]  G. Mitchell,et al.  A treatable new cause of chorea: Beta‐ketothiolase deficiency , 2013, Movement disorders : official journal of the Movement Disorder Society.

[8]  Vagelis Papakonstantinou,et al.  Enhanced interpretation of newborn screening results without analyte cutoff values , 2012, Genetics in Medicine.

[9]  J. Zschocke.  HSD10 disease: clinical consequences of mutations in the HSD17B10 gene , 2012, Journal of Inherited Metabolic Disease.

[10]  P. Rinaldo,et al.  Siblings With Mitochondrial Acetoacetyl-CoA Thiolase Deficiency Not Identified by Newborn Screening , 2011, Pediatrics.

[11]  F. Catanzano,et al.  The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach , 2010, Journal of Inherited Metabolic Disease.

[12]  C. Pérez-Cerdá,et al.  Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency. , 2007, Pediatric neurology.

[13]  S. Korman.  Inborn errors of isoleucine degradation: a review. , 2006, Molecular genetics and metabolism.

[14]  D. Millington,et al.  The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005 , 2006, Journal of Inherited Metabolic Disease.

[15]  T. Fukao,et al.  The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity , 2003, Journal of Inherited Metabolic Disease.

[16]  C. Yalçınkaya,et al.  Delayed‐onset dystonia associated with 3‐oxothiolase deficiency , 2001, Movement disorders : official journal of the Movement Disorder Society.

[17]  G. Gascon,et al.  3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms , 1994, Brain and Development.

[18]  T. Hashimoto,et al.  Molecular basis of 3-ketothiolase deficiency: identification of an AG to AC substitution at the splice acceptor site of intron 10 causing exon 11 skipping. , 1992, Biochimica et biophysica acta.

[19]  R. Schutgens,et al.  Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency. , 1992, The Journal of clinical investigation.

[20]  B. Middleton,et al.  The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria. , 1983, Clinica chimica acta; international journal of clinical chemistry.

[21]  J. Keating,et al.  Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome". , 1974, Pediatrics.

[22]  C R Scriver,et al.  A "new" disorder of isoleucine catabolism. , 1971, Lancet.

[23]  T. Fukao,et al.  Beta-Ketothiolase Deficiency Resolving Challenges in Diagnosis , 2016 .

[24]  R. Wierenga,et al.  Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry. , 2012, JIMD reports.