cerebroside/mrzlica

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Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency.

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Prijava / prijava

Clinical and biochemical findings in a male subject with progressive encephalopathy and peripheral neuropathy are presented. Early development was normal. At age 3.5 years, he had seizures associated with fever. Subsequently, there was progressive neurologic deterioration. A CT brain scan at age 4

Fabry's disease--a case report and review of literatures reported in Korea.

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Prijava / prijava

Fabry's disease is a rare, X-linked disorder of the glycosphingolipid metabolism, in which a partial or total deficiency of a lysosomal alpha(alpha)-galactosidase results in the progressive accumulation of neutral glycosphingolipids with terminal alpha galactose moieties (i.e., cerebroside di- and

Postnatal sudanophilic leukodystrophy in two siblings.

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Prijava / prijava

Reported here are two siblings with sudanophilic leukodystrophy occurring in early infancy. Soon after birth, high fever, distension of the abdomen and spasticity of the extremities were noted. Neurologic disorders, frequent convulsive seizures, and malnutrition caused both siblings to die at the

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Herbal & Natural Medicine

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