Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Lena Bezman"'
Publikováno v:
The Journal of Pediatrics. 146:528-532
Objective Plasma assay for very long-chain fatty acids has made it possible to perform large-scale screening of at-risk individuals to identify asymptomatic patients with X-linked adrenoleukodystrophy (X-ALD). We evaluated the burden of undiagnosed a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dee05c3e19621166573a712c7778a9e8
https://doi.org/10.1016/j.jpeds.2004.10.067
https://doi.org/10.1016/j.jpeds.2004.10.067
Autor:
Piero Rinaldo, Nancy E. Kass, Kirby D. Smith, Hugo W. Moser, Paul A. Watkins, Ann B. Moser, Gerald V. Raymond, Lena Bezman
Publikováno v:
Annals of Neurology. 49:512-517
Utilizing the plasma very long chain fatty acid assay, supplemented by mutation analysis and immunofluorescence assay, we determined the number of X-linked adrenoleukodystrophy (X-ALD) hemizygotes from the United States identified each year in the tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b5c18da1e4466497c287c0dcce78e2b
https://doi.org/10.1002/ana.101
https://doi.org/10.1002/ana.101
Publikováno v:
Annals of Neurology. 49:186-194
Our objective was to study the phenotype evolution of X-linked adrenoleukodystrophy (X-ALD) and the relation between axonal degeneration and cerebral demyelination. Although different X-ALD phenotypes are recognized, little is known about their evolu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::092c24d47d00e69012b05aba8c8b5bb5
https://doi.org/10.1002/1531-8249(20010201)49:2<186::aid-ana38>3.0.co
https://doi.org/10.1002/1531-8249(20010201)49:2<186::aid-ana38>3.0.co
Publikováno v:
Journal of Inherited Metabolic Disease. 23:273-277
Evaluation of the therapy of X-linked adrenoleukodystrophy (X-ALD) is hampered by its rarity and by the striking and unpredictable variation in phenotypic expression. We present two approaches that may facilitate therapy evaluation. (1) We have analy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::740590bef8c8d275ae815e1423f1f2ef
https://doi.org/10.1023/a:1005688130338
https://doi.org/10.1023/a:1005688130338
Autor:
Ann B. Moser, Sakkubai Naidu, Lena Bezman, Shou En Lu, Gerald V. Raymond, Nancy Kreiter, Hugo W. Moser
Publikováno v:
Annals of Neurology. 45:100-110
The assay of plasma very long chain fatty acids (VLCFAs), developed in our laboratory in 1981, has become the most widely used procedure for the diagnosis of X-linked adrenoleukodystrophy (X-ALD) and other peroxisomal disorders. We present here our 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5fec5a3fd2362c32daebfa42c27df6e6
https://doi.org/10.1002/1531-8249(199901)45:1<100::aid-art16>3.0.co
https://doi.org/10.1002/1531-8249(199901)45:1<100::aid-art16>3.0.co
Autor:
Hugo W. Moser, Lena Bezman
Publikováno v:
American Journal of Medical Genetics. 76:415-419
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5509a4f0acc67b14c6e6f496dbe50915
https://doi.org/10.1002/(sici)1096-8628(19980413)76:5<415::aid-ajmg9>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980413)76:5<415::aid-ajmg9>3.0.co
Publikováno v:
Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition. 26(5)
Obesity is a global public health issue. Although the etiology of this global epidemic is multifactorial, most sufferers would be delighted to find a relatively effortless way to lose weight. Herbal "weight loss pills" can fit the bill. The authors s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c92455ffa6d152b17926205662ff5dc
https://pubmed.ncbi.nlm.nih.gov/21947637
https://pubmed.ncbi.nlm.nih.gov/21947637
Autor:
Rachel Busin, Lawrence Charnas, Sakkubai Naidu, Barbara A. Karczeski, Ann Snowden, Gerald V. Raymond, Joe T.R. Clarke, Genila Bibat, Stacy Hewson, Catherine Reeves, Garry R. Cutting, Cicely J. Toomer, Ying Wang, Ann B. Moser, Karen Tam, Lena Bezman, Steven J. Steinberg, Paul A. Watkins, Gail Stetten
Publikováno v:
Molecular genetics and metabolism. 104(1-2)
X-linked adrenoleukodystrophy (X-ALD) is a progressive peroxisomal disorder affecting adrenal glands, testes and myelin stability that is caused by mutations in the ABCD1 (NM_000033) gene. Males with X-ALD may be diagnosed by the demonstration of ele
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::846484d49d22d6c25524fc7ea0d00f1c
https://pubmed.ncbi.nlm.nih.gov/21700483
https://pubmed.ncbi.nlm.nih.gov/21700483
Autor:
Doris D. M. Lin, Asif Mahmood, Gerald V. Raymond, Daniel J. Loes, Florian Eichler, Hugo W. Moser, Lena Bezman
Publikováno v:
Archives of neurology. 64(5)
Background An inherited disorder, X-linked adrenoleukodystrophy (X-ALD) is known to cause progressive inflammatory demyelination. Objective To analyze the adult pattern of disease progression in X-ALD. Design, Setting, and Patients We retrospectively
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9568636496a4bc89997a75cba6f87c73
https://pubmed.ncbi.nlm.nih.gov/17502464
https://pubmed.ncbi.nlm.nih.gov/17502464
Autor:
Augusto Odone, Elias R. Melhem, Gerald V. Raymond, Jiahong Xu, N. Hong Brereton, Daniel J. Loes, Hugo W. Moser, Lena Bezman, Shou En Lu, Prachi Dubey, Ann B. Moser, Larry R. Muenz, Richard Jones
Publikováno v:
Archives of neurology. 62(7)
Objectives To identify asymptomatic boys with X-linked adrenoleukodystrophy who have a normal magnetic resonance image (MRI), and to assess the effect of 4:1 glyceryl trioleate–glyceryl trierucate (Lorenzo’s oil) on disease progression. Method Ei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54c85138d9b0adc20684977f7a6b8891
https://pubmed.ncbi.nlm.nih.gov/16009756
https://pubmed.ncbi.nlm.nih.gov/16009756