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Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism

Johannes Zschocke, Jos P.N. Ruiter, Jochen Brand, Martin Lindner, Georg F. Hoffmann, Ronald J. A. Wanders, Ertan Mayatepek

Pediatric Research · 2000 · 115 citations · 8 references

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8

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Delia Lakich, Haig H. Kazazian, Stylianos E. Antonarakis et al. · Nature Genetics · 1993 · 796 citations · Full text

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2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency: A New Inborn Error of L-Isoleucine Metabolism

K. Michael Gibson, T. Burlingame, Boris M. Hogema et al. · Pediatric Research · 2000 · 96 citations

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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

Bruce Middleton, K. Bartlett · Clinica Chimica Acta · 1983 · 81 citations

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Short-Chain 3-Hydroxy-2-methylacyl-CoA Dehydrogenase from Rat Liver: Purification and Characterization of a Novel Enzyme of Isoleucine Metabolism

Ming‐Jiu Luo, Ling‐Feng Mao, Horst Schulz · Archives of Biochemistry and Biophysics · 1995 · 48 citations

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Biochemical investigations on a patient with a defect in cytosolic acetoacetyl‐CoA thiolase, associated with mental retardation

Michael J. Bennett, G Hosking, M. F. Smith et al. · Journal of Inherited Metabolic Disease · 1984 · 33 citations

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