Recent Publications on Wolman Disease: |  |
The role of lysosomal acid lipase in the intracellular metabolism of LDL-transported dehydroepiandrosterone-fatty acyl esters.
Dehydroepiandrosterone-fatty acyl esters (DHEA-FAE) belong to a unique...
Direct Link | 18th September, 2008
| Helsinki University Central Hospital, Helsinki University.
|
| [About the discovery of hypolipidemic drugs]
| 13th September, 2008
| Unidad de Arteriosclerosis, Servicio de Medicina Interna, Hospital Carlos
|
Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice.
Lysosomal acid lipase (LAL) is an essential enzyme that hydrolyzes...
Direct Link | 13th September, 2008
| Division and Program in Human Genetics, Cincinnati Children's Hospital
|
Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease.
Wolman disease is the infantile form of autosomal recessive acid lipase...
Direct Link | 9th September, 2008
| 1Division of Pediatric Hematology-Oncology, Department of Pediatrics,
|
A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease.
Lysosomal acid lipase plays an important role in maintaining cellular...
Direct Link | 9th September, 2008
| Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory
|
| [Diagnostic image (358). A neonate with splenomegaly and calcified adrenal glands]
| 25th March, 2008
| Gelre Ziekenhuizen, Postbus
|
Cholesterol ester storage disease with unusual neurological manifestations in two siblings: a report from South India.
Cholesterol ester storage disease is a rare autosomal recessive storage...
Direct Link | 8th March, 2008
| Department of Neurology, National Institute of mental Health &
|
Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation.
Wolman disease is a rapidly fatal lysosomal storage disease caused by the...
Direct Link | 27th October, 2007
| Bone Marrow Transplantation Unit, Department of Pediatric
|
| [Infant with failure to thrive and hepatosplenomegaly]
| 10th July, 2007
| Servicio de Pediatria, Hospital Da Costa, Burela, Lugo, Espana.
|
Electron microscopy of chorionic villus samples for prenatal diagnosis of lysosomal storage disorders.
Some lysosomal storage disorders cause progressive prenatal accumulation...
Direct Link | 11th May, 2007
| Department of Histopathology, Great Ormond Street Hospital, London, UK.
|
Overexpression of lysosomal acid lipase and other proteins in atherosclerosis.
Atherosclerosis is one of the major causes of morbidity and mortality in...
Direct Link | 25th October, 2006
| Medical Center, University Hospital Hamburg-Eppendorf, Martinistrasse 52,
|
| [Wolman disease]
| 30th August, 2006
| Department of Pediatrics, Osaka City University Graduate School of
|
A comparative study of cytoplasmic granules imaged by the real-time microscope, Nile Red and Filipin in fibroblasts from patients with lipid storage diseases.
Cytoplasmic granules in fibroblasts, visualized without stains, or...
Direct Link | 6th July, 2006
| Richardson Technologies Inc., Toronto, Ontario, Canada.
|
The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy.
Lysosomal acid lipase (LAL) is the critical enzyme for the hydrolysis of...
Direct Link | 31st January, 2006
| Division and Program in Human Genetics, Cincinnati Children's Hospital
|
Familial massive tendon xanthomatosis with decreased high-density lipoprotein-mediated cholesterol efflux.
We experienced a family with novel massive tendon xanthomatosis which can...
Direct Link | 12th October, 2005
| Department of Internal Medicine and Molecular Science, Graduate School of
|
