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Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases
Asgari MA +19 more
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2010
This lysosomal storage disease is an autosomal recessively inherited disorder and caused by a deficiency of lysosomal acid lipase activity. The structural gene for acid lipase has been located on chromosome 10q23. The mutations in Wolman’s disease are diverse and include nonsense mutations, frameshifts, missense mutations, and exon skipping.
Margit Pavelka, Jürgen Roth
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This lysosomal storage disease is an autosomal recessively inherited disorder and caused by a deficiency of lysosomal acid lipase activity. The structural gene for acid lipase has been located on chromosome 10q23. The mutations in Wolman’s disease are diverse and include nonsense mutations, frameshifts, missense mutations, and exon skipping.
Margit Pavelka, Jürgen Roth
openaire +1 more source
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 1995
Wolman disease is a severe disease associated with hepatosplenomegaly and adrenal calcifications; it is nearly always fatal in the first year of life.A boy was born to consanguineous parents. His weight was 3,500 g, height 53 cm. Hepatomegaly was observed at the age of 26 days; he also had vomiting and watery stools with failure to thrive. Diagnosis of
K, Mnif +4 more
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Wolman disease is a severe disease associated with hepatosplenomegaly and adrenal calcifications; it is nearly always fatal in the first year of life.A boy was born to consanguineous parents. His weight was 3,500 g, height 53 cm. Hepatomegaly was observed at the age of 26 days; he also had vomiting and watery stools with failure to thrive. Diagnosis of
K, Mnif +4 more
openaire +3 more sources
Prenatal diagnosis of Wolman disease
American Journal of Medical Genetics, Part A, 1978AbstractTwo pregnancies at risk for Wolman disease were monitored by assay and electrophoresis of acid lipase in cultured amniotic‐fluid cells. Cells from patient 1 had 5% of control levels of acid lipase, using 14C‐triolein as substrate; however, when artificial substrates (esters of 4‐methylumbelliferone and p‐nitrophenol) were used to measure acid ...
Paul M Coates +2 more
exaly +3 more sources
Radiology, 1972
Abstract Wolman's disease is a rare familial xanthomatosis resulting in death in early infancy. Diffuse punctate calcifications throughout enlarged, normally-shaped adrenal glands are characteristic of this entity.
John A Kirkpatrick +2 more
exaly +3 more sources
Abstract Wolman's disease is a rare familial xanthomatosis resulting in death in early infancy. Diffuse punctate calcifications throughout enlarged, normally-shaped adrenal glands are characteristic of this entity.
John A Kirkpatrick +2 more
exaly +3 more sources
Pediatric Pathology, 1989
CLINICAL HISTORY The infant was a 3470 g male of English-Irish ancestry delivered at 43 weeks’ gestation. The neonatal period was unremarkable. At a routine 6-week examination, the liver edge was noted to be firm and rounded although not enlarged; SGOT was 149 IU/l and SGPT was 60 IU/l. He was admitted to Montefiore Medical Center at 7 weeks of age for
S, Mitsudo, P, Zucker
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CLINICAL HISTORY The infant was a 3470 g male of English-Irish ancestry delivered at 43 weeks’ gestation. The neonatal period was unremarkable. At a routine 6-week examination, the liver edge was noted to be firm and rounded although not enlarged; SGOT was 149 IU/l and SGPT was 60 IU/l. He was admitted to Montefiore Medical Center at 7 weeks of age for
S, Mitsudo, P, Zucker
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Wolman's disease in a Jordanian infant
Annals of Tropical Paediatrics, 1991We report a case of Wolman's disease that is apparently the first to be reported in a Jordanian infant. The clue to diagnosis was the radiological evidence of bilateral adrenal calcifications and foam cells in bone marrow. The disease was confirmed by skin fibroblast culture which showed decreased 'acid esterase' activity.
A H, Mahdi +2 more
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