Results 81 to 90 of about 14,971 (151)
Histochemical characteristics of the striated inclusions of adrenoleukodystrophy.
, 1976 The straited accumulations in adrenal cortical cells and brain macrophages that are characteristic of adrenoleukodystrophy have been studied histochemically in cryostat sections to seek leads for the biochemical identification of the striated material ...
A B Johnson, J M Powers, H H Schaumburg
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Two novel missense mutations causing adrenoleukodystrophy in Italian patients
, 1999 The authors present two new missense mutations in exon 1 of the adrenoleukodystrophy (ALD) gene. The first, a C813T transition, results in the substitution Pro143 Ser in the third putative transmembrane domain of the adrenoleukodystrophy protein (ALDP ...
Perusi C +9 more
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Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism[S]
Journal of Lipid Research, 2010 In humans, peroxisomes harbor a complex set of enzymes acting on various lipophilic carboxylic acids, organized in two basic pathways, α-oxidation and β-oxidation; the latter pathway can also handle ω-oxidized compounds.
Paul P. Van Veldhoven
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Pericarditis as the Presenting Feature of Adrenoleukodystrophy
, 2011 X-linked adrenoleukodystrophy is characterized by elevated levels of very long chain fatty acids in the serum, brain, and adrenal glands that can lead to neurodevelopmental impairment and decreased adrenal function. We report here the case of a pediatric
Alysha J. Taxter +2 more
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, 2015 Christoph Wiesinger,1 Florian S Eichler,2 Johannes Berger1 1Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Vienna, Austria; 2Department for Neurology, Massachusetts General Hospital, Harvard ...
Eichler FS, Berger J, Wiesinger C
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Frontiers in Molecular BiosciencesWe introduce a novel tree-based method for visualizing molecular conformation sampling. Our method offers enhanced precision in highlighting conformational differences and facilitates the observation of local minimas within proteins fold space.
Thomas Haschka +3 more
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A novel temporal pattern of childhood cerebral X-linked adrenoleukodystrophy
, 2018 We report a 9-year-old boy, with childhood cerebral X-linked adrenoleukodystrophy (CCALD), presenting with an episode of loss of consciousness, fixed gaze, hypotonia and vomit with spontaneous resolution and post-ictal sleep.
Barsacchi, Marina +11 more
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, 2011 X-linked adrenoleukodystrophy (ALD) is caused by mutations in the ABCD1 gene that encodes a protein of the peroxisomal membrane named ALDP. Mutations in ALDP result in elevated levels of very long chain fatty acids (VLCFA) and reduced VLCFA oxidation in ...
Vollono C +4 more
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Downregulation of Abcd1 in Human Renal Cell Carcinoma
, 2011 Renal cell carcinoma (RCC) is the most common malignant tumor of the kidney. Delayed diagnosis may result in progression and metastasis. Markers for early detection of RCC are lacking.
HOUR, TZYH-CHYUAN;KUO, YI-ZIH;LIU, GUANG-YAW;KANG, WANG-YI;HUANG, CHAO-YUAN;TSAI, YU-CHIEH;WU, WEN-JENG;HUANG, SHU-PIN;PU, YEONG-SHIAU +1 more
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Bone marrow transplantation in patients with storage diseases: a developing country experience
Arquivos de Neuro-Psiquiatria, 2006 Bone marrow transplantation (BMT) is a therapeutic option for patients with genetic storage diseases. Between 1979 and 2002, eight patients, four females and four males (1 to 13 years old) were submitted to this procedure in our center.
Lange Marcos C. +10 more
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