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Neuroimaging Evolution in a Patient With Type 1 Glutaric Aciduria in Treatment Since 7 Months of Age
Introduction: Glutaric aciduria type 1 is a leukodystrophy. The MRI features can be characteristic and help to establish an early diagnosis. Objectives: A clinical and IRM correlation is performed chronologically after the ...
Hyperinsulinism-Hypoglycemia-Hyperammonemia Syndrome: A New GLUD1 Mutation
The hyperinsulinism hypoglyemia hyperammonemia syndrome (SHI/HA) is the second most common syndrome of congenital hyperinsulinism. The gain of function mutations of the GLUD-1 gene that encodes for the mitochondrial enzyme ...
004 - A Novel Familial Case of Diffuse Leukodystrophy Related to NDUFV1 Compound Heterozygous Mutations
Introduction: Mitochondrial leukodystrophy due to complex I deficiency is an entity with high genetic heterogeneity, the mutations of the gene NDUFV1 being one of the causes of this disease. It is an autosomal recessive ...