نتایج جستجو برای: adrenoleukodystrophy

تعداد نتایج: 2020  

Journal: :European Journal of Human Genetics 2011

Journal: :ACS applied materials & interfaces 2016
Yantao Su Chao Xin Yancong Feng Qinxian Lin Xinwei Wang Jun Liang Jiaxin Zheng Yuan Lin Feng Pan

The present work intends to explain why ultrathin Al2O3 atomic-layer-deposited (ALD) on the back contact with rectification and tunneling effects can significantly improve the performance of CdTe solar cells in our previous work [ Liang , J. ; et al. Appl. Phys. Lett. 2015 , 107 , 013907 ]. Herein, we further study the mechanism through establishing the interfacial energy band diagram configura...

Journal: :Environmental science & technology 2007
Jami L Montgomery Thomas Harmon William Kaiser Arthur Sanderson Charles N Haas Richard Hooper Barbara Minsker Jerald Schnoor Nicholas L Clesceri Wendy Graham Patrick Brezonik

JAMI L. MONTGOMERY WATERS NETWORK PROJECT OFFICE THOMAS HARMON UNIVERSITY OF CALIFORNIA MERCED WILLIAM K AISER UNIVERSITY OF CALIFORNIA LOS ANGELES ARTHUR SANDERSON RENSSELAER POLY­ TECHNIC INSTITUTE CHARLES N. HA AS DREXEL UNIVERSITY RICHARD HOOPER CUAHSI BARBAR A MINSKER UNIVERSITY OF ILLINOIS URBANA–CHAMPAIGN JER ALD SCHNOOR UNIVERSITY OF IOWA NICHOL AS L. CLESCERI RENSSELAER POLY­ TECHNIC I...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1989
G M Elrington D E Bateman M J Jeffrey N F Lawton

A man with hypoadrenalism died from a rapidly progressive pseudobulbar palsy, due to adult onset adrenoleukodystrophy. This diagnosis suggested that his brother, with a longstanding spastic paraparesis, suffered from adrenomyeloneuropathy. Both cases were confirmed biochemically. The heterogeneity of expression of this x-linked disorder is described, with the consequent difficulty in diagnosis ...

2018
Igor Adameyko

Project Description: Cells compute by processing external stimuli according to their internal state, abiding to rules that remain poorly understood (Rubens et al., 2016). Cell fate decisions are the key for constructing a multicellular organism. Errors, bias or aberrant delays in making such decisions can lead to neoplasia or in extreme cases, tumorigenesis. Our key question is how cells make d...

2014
J. Berger S. Forss-Petter F.S. Eichler

Currently the molecular basis for the clinical heterogeneity of X-linked adrenoleukodystrophy (X-ALD) is poorly understood. The genetic bases for all different phenotypic variants of X-ALD are mutations in the gene encoding the peroxisomal ATP-binding cassette (ABC) transporter, ABCD1 (formerly adrenoleukodystrophy protein, ALDP). ABCD1 transports CoA-activated very long-chain fatty acids from ...

Journal: :Neurology 2015
Saima Siddiqui Gauri Pawar Jeffery P Hogg

A 45-year-old man with no medical history presented with behavioral changes. He was withdrawn from his family and friends. Home and finances had fallen into disorder. He was disheveled and incontinent of urine and feces. He lacked insight into his cognitive decline. His skin was bronzed and the examination was notable only for upgoing plantar responses. Peroxisomal fatty acid profile was elevat...

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