Literature DB >> 22422206

Lysosomal disorders associated with leukoencephalopathy.

Deborah L Renaud1.   

Abstract

Metachromatic leukodystrophy and Krabbe's disease are among the most widely recognized causes of leukodystrophy. However, white matter changes have been described in several other lysosomal storage disorders. These conditions are summarized and those associated with hypomyelination are reviewed in more detail. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Entities:  

Mesh：

Year:  2012        PMID： 22422206     DOI： 10.1055/s-0032-1306386

Source DB:  PubMed          Journal:  Semin Neurol        ISSN： 0271-8235            Impact factor:   3.420


  7 in total

1.  Rapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an Unbiased 1H NMR-Linked Metabolomics Strategy.

Authors:  Benita C Percival; Yvonne L Latour; Cynthia J Tifft; Martin Grootveld
Journal:  Cells       Date:  2021-03-05       Impact factor: 6.600

Review 2.  Free sialic acid storage disorder: Progress and promise.

Authors:  Marjan Huizing; Mary E Hackbarth; David R Adams; Melissa Wasserstein; Marc C Patterson; Steven U Walkley; William A Gahl
Journal:  Neurosci Lett       Date:  2021-04-20       Impact factor: 3.046

3.  GGDonto ontology as a knowledge-base for genetic diseases and disorders of glycan metabolism and their causative genes.

Authors:  Elena Solovieva; Toshihide Shikanai; Noriaki Fujita; Hisashi Narimatsu
Journal:  J Biomed Semantics       Date:  2018-04-18

4.  Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.

Authors:  Benoît Renvoisé; Jaerak Chang; Rajat Singh; Sayuri Yonekawa; Edmond J FitzGibbon; Ami Mankodi; Adeline Vanderver; Alice Schindler; Camilo Toro; William A Gahl; Don J Mahuran; Craig Blackstone; Tyler Mark Pierson
Journal:  Ann Clin Transl Neurol       Date:  2014-06-01       Impact factor: 4.511

5.  Toxicity and Detoxification Effects of Herbal Caowu via Ultra Performance Liquid Chromatography/Mass Spectrometry Metabolomics Analyzed using Pattern Recognition Method.

Authors:  Yan Yan; Aihua Zhang; Hui Dong; Guangli Yan; Hui Sun; Xiuhong Wu; Ying Han; Xijun Wang
Journal:  Pharmacogn Mag       Date:  2017-11-13       Impact factor: 1.085

Review 6.  Lipid-Binding Proteins in Brain Health and Disease.

Authors:  Miriam Corraliza-Gomez; Diego Sanchez; Maria D Ganfornina
Journal:  Front Neurol       Date:  2019-11-07       Impact factor: 4.003

7.  The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II).

Authors:  Miguel Sampayo-Cordero; Bernat Miguel-Huguet; Andrea Malfettone; José Manuel Pérez-García; Antonio Llombart-Cussac; Javier Cortés; Almudena Pardo; Jordi Pérez-López
Journal:  Int J Environ Res Public Health       Date:  2020-09-10       Impact factor: 3.390
  7 in total

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