Clinical and genetic studies of five fatal cases of Japanese Gaucher disease type 1.

doi:10.1111/j.1442-200x.1996.tb03476.x

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Article

Clinical and genetic studies of five fatal cases of Japanese Gaucher disease type 1.

Acta paediatrica Japonica : Overseas edition - 1 Jun 1996

Ida H, Rennert O M, Ito T, Maekawa K, Eto Y

Abstract excerpt

Five fatal cases of Japanese patients with type 1 Gaucher disease were studied. The causes of death included hemorrhage secondary to esophageal varices (two cases), respiratory distress (one case), hepatic failure (one case) and postoperative sepsis (one case). All of the patients had previous sp...

Topics

Adolescent
Adult
Cause of Death
Child
Child, Preschool
DNA Mutational Analysis
Female
Gaucher Disease
Genotype
Humans
Infant
Male
Polymerase Chain Reaction
Risk Factors

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