Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency.

[1]  P. Matthews,et al.  Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. , 1994, Brain : a journal of neurology.

[2]  P. Matthews,et al.  Neurodevelopmental abnormalities and lactic acidosis in a girl with a 20‐bp deletion in the X‐linked pyruvate dehydrogenase E1α subunit gene , 1993, Neurology.

[3]  G. Brown,et al.  Molecular genetic characterization of an X‐linked form of Leigh's syndrome , 1993, Annals of neurology.

[4]  B. Robinson,et al.  Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex. , 1993, Human molecular genetics.

[5]  P M Matthews,et al.  Proton magnetic resonance spectroscopic imaging for metabolic characterization of demyelinating plaques , 1992, Annals of neurology.

[6]  J. Valk,et al.  1H and 31P magnetic resonance spectroscopy of the brain in degenerative cerebral disorders , 1992, Annals of neurology.

[7]  D. Kerr,et al.  Biochemical and molecular aspects of pyruvate dehydrogenase complex deficiency , 1992 .

[8]  G. Brown,et al.  Mutations and polymorphisms in the pyruvate dehydrogenase E1α gene , 1992 .

[9]  B. Robinson,et al.  Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene. , 1991, American journal of human genetics.

[10]  P. Matthews,et al.  In vivo muscle magnetic resonance spectroscopy in the clinical investigation of mitochondria1 disease , 1991, Neurology.

[11]  T. Roche,et al.  Molecular biology and biochemistry of pyruvate dehydrogenase complexes 1 , 1990, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[12]  G. Brown,et al.  Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene. , 1990, American journal of human genetics.

[13]  G. Brown,et al.  Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene. , 1990, Genomics.

[14]  T. Huh,et al.  Three genes for enzymes of the pyruvate dehydrogenase complex map to human chromosomes 3, 7, and X. , 1990, American journal of human genetics.

[15]  P. Szabo,et al.  Abnormalities of Pyruvate Dehydrogenase Complex in Brain Disease a , 1989, Annals of the New York Academy of Sciences.

[16]  G. Brown,et al.  The Clinical and Biochemical Spectrum of Human Pyruvate Dehydrogenase Complex Deficiency , 1989, Annals of the New York Academy of Sciences.

[17]  D. Kerr,et al.  Genetic Defects in Human Pyruvate Dehydrogenase a , 1989, Annals of the New York Academy of Sciences.

[18]  S. Old,et al.  Pyruvate dehydrogenase complex deficiency: Biochemical and immunoblot analysis of cultured skin fibroblasts , 1989, Annals of neurology.

[19]  W. Dobyns.  Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia , 1989, Neurology.

[20]  E. Kolodny.  Agenesis of the corpus callosum , 1989, Neurology.

[21]  Y. Kagawa,et al.  Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift. , 1989, American journal of human genetics.

[22]  G. Brown,et al.  X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex. , 1989, Genomics.

[23]  Charles R.scriver,et al.  The Metabolic basis of inherited disease , 1989 .

[24]  Robinson Bh,et al.  In Utero Central Nervous System Damage in Pyruvate Dehydrogenase Deficiency , 1988 .

[25]  L. de Meirleir,et al.  Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex. , 1988, The Journal of biological chemistry.

[26]  B. Robinson,et al.  Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex. , 1987, The Journal of pediatrics.

[27]  G. Brown,et al.  The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA. , 1987, The Journal of biological chemistry.

[28]  V. Berghe,et al.  AN INFANTILE AUTISTIC SYNDROME CHARACTERISED BY THE PRESENCE OF SUCCINYLPURINES IN BODY FLUIDS , 1984, The Lancet.

[29]  R. Kelley.  Review: the cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects. , 1983, American journal of medical genetics.

[30]  F. Gabreëls,et al.  Pyruvate dehydrogenase deficiency restricted to brain , 1981, Neurology.

[31]  G K Radda,et al.  Studies of acidosis in the ischaemic heart by phosphorus nuclear magnetic resonance. , 1979, The Biochemical journal.