L Charnas
Overview
Explore the profile of L Charnas including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
19
Citations
404
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0
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Recent Articles
1.
Tolar J, Petryk A, Khan K, Bjoraker K, Jessurun J, Dolan M, et al.
Bone Marrow Transplant
. 2008 Sep;
43(1):21-7.
PMID: 18776925
Wolman disease is the infantile form of autosomal recessive acid lipase deficiency, typically presenting in early infancy with diarrhea, massive hepatosplenomegaly, failure to thrive, and calcification of adrenal glands. Hematopoietic...
2.
Charnas L, Eichler F, Kohlschuetter A, Tolar J, Orchard P
Haematologica
. 2008 May;
93(5):e47.
PMID: 18450730
No abstract available.
3.
Tolar J, Grewal S, Bjoraker K, Whitley C, Shapiro E, Charnas L, et al.
Bone Marrow Transplant
. 2007 Nov;
41(6):531-5.
PMID: 18037941
Hurler syndrome (mucopolysaccharidosis type I, MPS IH) is characterized by a deficiency of alpha-L-iduronidase resulting in progressive multiorgan dysfunction. We sought to determine whether enzyme replacement therapy (ERT) with iduronidase...
4.
Tolar J, Orchard P, Bjoraker K, Ziegler R, Shapiro E, Charnas L
Bone Marrow Transplant
. 2007 Feb;
39(4):211-5.
PMID: 17290278
Hematopoietic stem cell transplantation as a treatment for childhood cerebral adrenoleukodystrophy (ALD) has historically only been successful in early disease. As ALD is associated with oxidative damage, we reasoned that...
5.
Fraser C, Charnas L, Orchard P
Bone Marrow Transplant
. 2005 Jul;
36(8):733-4.
PMID: 16044132
No abstract available.
6.
Grewal S, Shapiro E, Braunlin E, Charnas L, Krivit W, Orchard P, et al.
Bone Marrow Transplant
. 2003 Oct;
32(9):957-60.
PMID: 14561999
I-cell disease or mucolipidosis type II, a rare inherited storage disorder of lysosomal enzyme localization, is characterized by dysostosis multiplex, progressive severe psychomotor retardation and death by 5-8 years from...
7.
Richard G, Lin J, Smith L, Whyte Y, Itin P, Wollina U, et al.
J Invest Dermatol
. 1997 Nov;
109(5):666-71.
PMID: 9347797
Erythrokeratodermias are a clinically heterogeneous group of rare autosomal dominant disorders of cornification with overlapping features including hyperkeratosis and erythema. We ascertained five extended pedigrees with different phenotypes for a...
8.
Nussbaum R, Orrison B, Janne P, Charnas L, Chinault A
Hum Genet
. 1997 Feb;
99(2):145-50.
PMID: 9048911
The oculocerebrorenal syndrome of Lowe (OCRL; McKusick 309,000) is a rare X-linked disorder characterized by mental retardation, congenital cataracts, and Fanconi syndrome of the proximal renal tubules. We have carried...
9.
Kenworthy L, Charnas L
Am J Med Genet
. 1995 Nov;
59(3):283-90.
PMID: 8599350
The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by congenital cataracts, cognitive impairment, and renal tubular dysfunction. Although there is a wide range of intellectual function in...
10.
Gahl W, Charnas L, Markello T, Bernardini I, Ishak K, Dalakas M
Biochem Med Metab Biol
. 1992 Dec;
48(3):275-85.
PMID: 1476793
Nephropathic cystinosis is a lysosomal storage disorder characterized by renal failure, multisystem organ damage, and poor growth. Oral cysteamine therapy retards renal deterioration and enhances growth, but parenchymal organ cystine...