wolman disease/zlatenica

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Wolman disease with jaundice and subarachnoid hemorrhage.

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Prijava / prijava

Lysosomal Acid Lipase Deficiency in Japan: A Case Report of Siblings and a Literature Review of Cases in Japan.

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Prijava / prijava

We report on two siblings with early onset lysosomal acid lipase deficiency or Wolman disease. Their parents had a consanguineous marriage. The children showed evidence of abdominal distension and failed to thrive, despite having regular nutrition. At 3-4 months of age, their abdominal distension

Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation.

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Prijava / prijava

The lysosomal acid lipase (LAL) is the enzyme responsible of the hydrolysis of cholesteryl esters and triglycerides within endo-lysosomes. Loss of enzyme activity leads to accumulation of cholesteryl esters and triglycerides in the lysosome of most tissues. The complete deficiency of LAL is

[Clinical and histoenzymological peculiarities of cholesterol storage in 2 children of the same family].

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Two sisters, aged 6 and 9 years, presented with similar episodes of acute illness. Clinical, biological, pathological, ultrastructural, histochemical and biochemical investigations led to a diagnosis of cholesterol ester storage disease. The two have been followed for 7 years and during that time a

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