Latest papers

Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice.

The Middle-East connection of Wolman Disease.

[Familial hyperchylomicronemia with a new mutation of the lipoprotein lipase gene].

Enzyme therapy for lysosomal acid lipase deficiency in the mouse.

Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease.

Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span.

[Wolman disease and cholesteryl ester storage disease]. AD - Department of Pediatrics, Osaka City University Graduate School of Medicine. FAU - Tanaka, A AU - Tanaka A LA - jpn PT - Journal Article PT - Review PL - Japan TA - Nihon Rinsho JT - Nihon rinsho. Japanese journal of clinical medicine JID - 0420546 RN - 0 (Cholesterol Esters) RN - 0 (Triglycerides) RN - EC 3.1.1.3 (Lipase) SB - IM RF - 19 MHDA- 2001/08/24 10:01 PST - ppublish SO - Nihon Rinsho. 2001 Mar;59 Suppl 3:337-40.

Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase.

Wolman disease successfully treated by bone marrow transplantation.

Mitral valve prolapse in healthy relatives of patients with familial Pseudoxanthoma elasticum.

[Wolman's disease: a case with malabsorption and 2 cases with virus- negative fatty liver cirrhosis].

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease.

Wolman's disease--a case report.

[A 3-month-old girl with fever, abdominal distension, vomiting, and jaundice].

[Lysosomal acid lipase deficiency. Overview of Czech patients]

Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.

Wolman's disease diagnosed by intestinal biopsy.

Normal fluorine-18-labelled 2-fluoro-2-deoxyglucose positron emission tomography and magnetic resonance imaging of the brain in Wolman disease.

Morphological characteristics of lipid accumulation in liver-constituting cells of acid lipase deficiency rats (Wolman's disease model rats).

Fatal genetic defect causing Wolman disease.