Warning: The NCBI web site requires JavaScript to function. more...

Sign in to NCBI

PubMed

US National Library of Medicine National Institutes of Health

RSS
RSS Settings
- Search: (Wolman Disease[TIAB]) AND english[la] AND human[mh] AND "last...
- Number of items displayed:
- Feed name:
Save search
Advanced
Help

We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Results: 19

Select item 230351171.

δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders.

Xu M, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, Marugan JJ, Xiao J, Southall N, Pavan WJ, Davidson C, Walkley SU, Remaley AT, Baxa U, Sun W, McKew JC, Austin CP, Zheng W.

J Biol Chem. 2012 Nov 16;287(47):39349-60. doi: 10.1074/jbc.M112.357707. Epub 2012 Oct 3. Erratum in: J Biol Chem. 2013 Jan 4;288(1):296. Finkes, Sally [corrected to Firnkes, Sally].

PMID:: 23035117; [PubMed - indexed for MEDLINE]

Related citations

Select item 224837932.

A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2.

Hamilton J, Jones I, Srivastava R, Galloway P.

Clin Chim Acta. 2012 Aug 16;413(15-16):1207-10. doi: 10.1016/j.cca.2012.03.019. Epub 2012 Mar 29.

PMID:: 22483793; [PubMed - indexed for MEDLINE]

Related citations

Select item 223958093.

Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients.

Guénard F, Houde A, Bouchard L, Tchernof A, Deshaies Y, Biron S, Lescelleur O, Biertho L, Marceau S, Pérusse L, Vohl MC.

Obesity (Silver Spring). 2012 Oct;20(10):2075-82. doi: 10.1038/oby.2012.52. Epub 2012 Mar 7.

PMID:: 22395809; [PubMed - indexed for MEDLINE]

Related citations

Select item 222270724.

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.

Fasano T, Pisciotta L, Bocchi L, Guardamagna O, Assandro P, Rabacchi C, Zanoni P, Filocamo M, Bertolini S, Calandra S.

Mol Genet Metab. 2012 Mar;105(3):450-6. doi: 10.1016/j.ymgme.2011.12.008. Epub 2011 Dec 17.

PMID:: 22227072; [PubMed - indexed for MEDLINE]

Related citations

Select item 221381085.

Structural bases of Wolman disease and cholesteryl ester storage disease.

Saito S, Ohno K, Suzuki T, Sakuraba H.

Mol Genet Metab. 2012 Feb;105(2):244-8. doi: 10.1016/j.ymgme.2011.11.004. Epub 2011 Nov 20.

PMID:: 22138108; [PubMed - indexed for MEDLINE]

Related citations

Select item 219767786.

Early steps in steroidogenesis: intracellular cholesterol trafficking.

Miller WL, Bose HS.

J Lipid Res. 2011 Dec;52(12):2111-35. doi: 10.1194/jlr.R016675. Epub 2011 Oct 5. Review.

PMID:: 21976778; [PubMed - indexed for MEDLINE]

Free PMC Article

Related citations

Select item 219637857.

Intragenic deletion as a novel type of mutation in Wolman disease.

Lee TM, Welsh M, Benhamed S, Chung WK.

Mol Genet Metab. 2011 Dec;104(4):703-5. doi: 10.1016/j.ymgme.2011.09.006. Epub 2011 Sep 14.

PMID:: 21963785; [PubMed - indexed for MEDLINE]

Related citations

Select item 212913218.

Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry.

Valles-Ayoub Y, Esfandiarifard S, No D, Sinai P, Khokher Z, Kohan M, Kahen T, Darvish D.

Genet Test Mol Biomarkers. 2011 Jun;15(6):395-8. doi: 10.1089/gtmb.2010.0203. Epub 2011 Feb 3.

PMID:: 21291321; [PubMed - indexed for MEDLINE]

Related citations

Select item 187965469.

Role of lysosomal acid lipase in the intracellular metabolism of LDL-transported dehydroepiandrosterone-fatty acyl esters.

Wang F, Wang W, Wähälä K, Adlercreutz H, Ikonen E, Tikkanen MJ.

Am J Physiol Endocrinol Metab. 2008 Dec;295(6):E1455-61. doi: 10.1152/ajpendo.90527.2008. Epub 2008 Sep 16.

PMID:: 18796546; [PubMed - indexed for MEDLINE]

Related citations

Select item 1877692510.

Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease.

Tolar J, Petryk A, Khan K, Bjoraker KJ, Jessurun J, Dolan M, Kivisto T, Charnas L, Shapiro EG, Orchard PJ.

Bone Marrow Transplant. 2009 Jan;43(1):21-7. doi: 10.1038/bmt.2008.273. Epub 2008 Sep 8.

PMID:: 18776925; [PubMed - indexed for MEDLINE]

Related citations

Select item 1877568711.

A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease.

Hooper AJ, Tran HA, Formby MR, Burnett JR.

Clin Chim Acta. 2008 Dec;398(1-2):152-4. doi: 10.1016/j.cca.2008.08.007. Epub 2008 Aug 13.

PMID:: 18775687; [PubMed - indexed for MEDLINE]

Related citations

Select item 1841389912.

Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice.

Du H, Cameron TL, Garger SJ, Pogue GP, Hamm LA, White E, Hanley KM, Grabowski GA.

J Lipid Res. 2008 Aug;49(8):1646-57. doi: 10.1194/jlr.M700482-JLR200. Epub 2008 Apr 15.

PMID:: 18413899; [PubMed - indexed for MEDLINE]

Free PMC Article

Related citations

Select item 1745509413.

Electron microscopy of chorionic villus samples for prenatal diagnosis of lysosomal storage disorders.

Fowler DJ, Anderson G, Vellodi A, Malone M, Sebire NJ.

Ultrastruct Pathol. 2007 Jan-Feb;31(1):15-21.

PMID:: 17455094; [PubMed - indexed for MEDLINE]

Related citations

Select item 1703380414.

Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation.

Stein J, Garty BZ, Dror Y, Fenig E, Zeigler M, Yaniv I.

Eur J Pediatr. 2007 Jul;166(7):663-6. Epub 2006 Oct 11.

PMID:: 17033804; [PubMed - indexed for MEDLINE]

Related citations

Select item 1643519215.

A comparative study of cytoplasmic granules imaged by the real-time microscope, Nile Red and Filipin in fibroblasts from patients with lipid storage diseases.

Pham NA, Gal MR, Bagshaw RD, Mohr AJ, Chue B, Richardson T, Callahan JW.

J Inherit Metab Dis. 2005;28(6):991-1004.

PMID:: 16435192; [PubMed - indexed for MEDLINE]

Related citations

Select item 1638091616.

The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy.

Du H, Levine M, Ganesa C, Witte DP, Cole ES, Grabowski GA.

Am J Hum Genet. 2005 Dec;77(6):1061-74. Epub 2005 Oct 27.

PMID:: 16380916; [PubMed - indexed for MEDLINE]

Free PMC Article

Related citations

Select item 1587676617.

Wolman disease: diagnosis by leucocyte acid lipase estimation.

Surve TY, Muranjan MN, Barucha BA.

Indian J Pediatr. 2005 Apr;72(4):353-4.

PMID:: 15876766; [PubMed - indexed for MEDLINE]

Related citations

Select item 1581875618.

Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report.

Drebber U, Andersen M, Kasper HU, Lohse P, Stolte M, Dienes HP.

World J Gastroenterol. 2005 Apr 21;11(15):2364-6.

PMID:: 15818756; [PubMed - indexed for MEDLINE]

Related citations

Select item 1520027519.

Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy.

Boldrini R, Devito R, Biselli R, Filocamo M, Bosman C.

Pathol Res Pract. 2004;200(3):231-40.

PMID:: 15200275; [PubMed - indexed for MEDLINE]

Related citations

Supplemental Content

Filters: Manage Filters

3 free full-text articles in PubMed Central

Review Early steps in steroidogenesis: intracellular cholesterol trafficking. [J Lipid Res. 2011]
Review Early steps in steroidogenesis: intracellular cholesterol trafficking.
Miller WL, Bose HS. J Lipid Res. 2011 Dec; 52(12):2111-35. Epub 2011 Oct 5.
Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice. [J Lipid Res. 2008]
Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice.
Du H, Cameron TL, Garger SJ, Pogue GP, Hamm LA, White E, Hanley KM, Grabowski GA. J Lipid Res. 2008 Aug; 49(8):1646-57. Epub 2008 Apr 15.
The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy. [Am J Hum Genet. 2005]
The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy.
Du H, Levine M, Ganesa C, Witte DP, Cole ES, Grabowski GA. Am J Hum Genet. 2005 Dec; 77(6):1061-74. Epub 2005 Oct 27.

Find related data

Search details

Recent activity

Clear Turn Off Turn On

(Wolman Disease[TIAB]) AND english[la] AND human[mh] AND "last 36... (19)
(Wolman Disease[TIAB]) AND english[la] AND human[mh] AND "last 3600 days"[dp]
Search

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

You are here: NCBI > Literature > PubMed

Write to the Help Desk