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Familial lipoprotein lipase deficiency in infancy: Clinical, biochemical, and molecular study

✍ Scribed by Juan Carlos Feoli-Fonseca; Emile Lévy; Muriel Godard; Marie Lambert

Book ID
117166207
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
58 KB
Volume
133
Category
Article
ISSN
1097-6833

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A diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency was made in four sibs at different ages. The first three, including a pair of twins, had retarded psychomotor development, poor social contact, and seizures. Biologically, hyperhomocysteinemia and hypomethioninemia were found asso