fumarates and Leukomalacia--Periventricular

fumarates has been researched along with Leukomalacia--Periventricular* in 1 studies

Other Studies

1 other study(ies) available for fumarates and Leukomalacia--Periventricular

Article	Year
Fumarase deficiency presenting with periventricular cysts. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:5 A fumarase-deficient patient expressed a novel phenotype of congenital cerebral ventricular dilatation and periventricular cysts. The patient was a compound heterozygote for two mutations that are the only ones among the 12 published mutations that have been found in multiple, unrelated, fumarase-deficient patients. Topics: Brain; Cysts; DNA Mutational Analysis; DNA, Complementary; Electroencephalography; Fatal Outcome; Female; Fumarate Hydratase; Fumarates; Heterozygote; Histidine; Humans; Infant, Newborn; Ketoglutaric Acids; Leukomalacia, Periventricular; Lysine; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Phenotype; Pyruvic Acid; Ultrasonography	2005

Article

Year

Fumarase deficiency presenting with periventricular cysts.

Journal of inherited metabolic disease, 2005, Volume: 28, Issue:5

A fumarase-deficient patient expressed a novel phenotype of congenital cerebral ventricular dilatation and periventricular cysts. The patient was a compound heterozygote for two mutations that are the only ones among the 12 published mutations that have been found in multiple, unrelated, fumarase-deficient patients.

Topics: Brain; Cysts; DNA Mutational Analysis; DNA, Complementary; Electroencephalography; Fatal Outcome; Female; Fumarate Hydratase; Fumarates; Heterozygote; Histidine; Humans; Infant, Newborn; Ketoglutaric Acids; Leukomalacia, Periventricular; Lysine; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Phenotype; Pyruvic Acid; Ultrasonography

2005