Congenital fumarase deficiency presenting with hypotonia and areflexia

[1] INTRACELLULAR-DISTRIBUTION OF FUMARASE IN VARIOUS ANIMALS [J]. JOURNAL OF BIOCHEMISTRY, 1984, 96 (01) : 189 - 195

[2] MUTATION OF THE FUMARASE GENE IN 2 SIBLINGS WITH PROGRESSIVE ENCEPHALOPATHY AND FUMARASE DEFICIENCY [J]. JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (06) : 2514 - 2518

[3] MITOCHONDRIAL AND CYTOPLASMIC FORMS OF FUMARATE HYDRATASE ASSIGNED TO CHROMOSOME-1 [J]. CYTOGENETICS AND CELL GENETICS, 1976, 16 (1-5): : 118 - 121

[4] DESPOISSES S, 1984, CYTOGENET CELL GENET, V37, P450

[5] ELPPELEG ON, 1992, J PEDIATR, V121, P752

[6] FUMARASE DEFICIENCY IS AN AUTOSOMAL RECESSIVE ENCEPHALOPATHY AFFECTING BOTH THE MITOCHONDRIAL AND THE CYTOSOLIC ENZYMES [J]. NEUROLOGY, 1990, 40 (03) : 495 - 499

[7] PERIPHERAL NEUROPATHY IN LEIGHS DISEASE [J]. BRAIN, 1990, 113 : 447 - 462

[8] PETROVABENEDICT R, 1987, AM J HUM GENET, V40, P257

[9] REMES AM, 1992, PEDIATRICS, V89, P730

[10] THE SINGLE TRANSLATION PRODUCT OF THE FUM1 GENE (FUMARASE) IS PROCESSED IN MITOCHONDRIA BEFORE BEING DISTRIBUTED BETWEEN THE CYTOSOL AND MITOCHONDRIA IN SACCHAROMYCES-CEREVISIAE [J]. MOLECULAR AND CELLULAR BIOLOGY, 1994, 14 (07) : 4770 - 4778

[1] INTRACELLULAR-DISTRIBUTION OF FUMARASE IN VARIOUS ANIMALS [J]. JOURNAL OF BIOCHEMISTRY, 1984, 96 (01) : 189 - 195

[2] MUTATION OF THE FUMARASE GENE IN 2 SIBLINGS WITH PROGRESSIVE ENCEPHALOPATHY AND FUMARASE DEFICIENCY [J]. JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (06) : 2514 - 2518

[3] MITOCHONDRIAL AND CYTOPLASMIC FORMS OF FUMARATE HYDRATASE ASSIGNED TO CHROMOSOME-1 [J]. CYTOGENETICS AND CELL GENETICS, 1976, 16 (1-5): : 118 - 121

[4] DESPOISSES S, 1984, CYTOGENET CELL GENET, V37, P450

[5] ELPPELEG ON, 1992, J PEDIATR, V121, P752

[6] FUMARASE DEFICIENCY IS AN AUTOSOMAL RECESSIVE ENCEPHALOPATHY AFFECTING BOTH THE MITOCHONDRIAL AND THE CYTOSOLIC ENZYMES [J]. NEUROLOGY, 1990, 40 (03) : 495 - 499

[7] PERIPHERAL NEUROPATHY IN LEIGHS DISEASE [J]. BRAIN, 1990, 113 : 447 - 462

[8] PETROVABENEDICT R, 1987, AM J HUM GENET, V40, P257

[9] REMES AM, 1992, PEDIATRICS, V89, P730

[10] THE SINGLE TRANSLATION PRODUCT OF THE FUM1 GENE (FUMARASE) IS PROCESSED IN MITOCHONDRIA BEFORE BEING DISTRIBUTED BETWEEN THE CYTOSOL AND MITOCHONDRIA IN SACCHAROMYCES-CEREVISIAE [J]. MOLECULAR AND CELLULAR BIOLOGY, 1994, 14 (07) : 4770 - 4778