Lysosomal Storage Disease

Lysosomal storage diseases and related disorders are a heterogeneous group of rare diseases caused by genetic mutations that result in deficiencies of specific lysosomal enzymes. Here is the latest research on lysosomal storage diseases.

October 25, 2021

Distribution of seven ApoC-III glycoforms in plasma, VLDL, IDL, LDL and HDL of healthy subjects.

Journal of Proteomics
Marina RodríguezJosep Ribalta
October 25, 2021
Review

Regulation of Sirt1 on energy metabolism and immune response in rheumatoid arthritis.

International Immunopharmacology
Yi-Jin WuJian Zuo
October 26, 2021

Successful therapeutic plasma exchange in a case with extremely severe hypertriglyceridemia secondary to diabetic ketoacidosis concomitant with type IX glycogen storage disease.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis
Merve KisiogluGulay Karaguzel
October 26, 2021
Review
Open Access

Current and Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord.

Frontiers in Molecular Neuroscience
Thomas Leth JensenDavid P D Woldbye
October 26, 2021
Open Access

Maternal High-Fat Diet Disturbs the DNA Methylation Profile in the Brown Adipose Tissue of Offspring Mice.

Frontiers in Endocrinology
Qian ZhangXiaojing Wang
October 26, 2021

Language Outcomes in Cochlear Implanted Children with White Matter Disturbances.

Iranian Journal of Otorhinolaryngology
Anuradha SharmaSanjay Munjal
October 26, 2021
Case Report

Neuropsychological Functioning in Alexander Disease: A Case Series.

Child Neurology Open
Alexandra C KirschMichael J Zaccariello
October 26, 2021
Open Access

Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease.

PloS One
Margarita M IvanovaOzlem Goker-Alpan
October 22, 2021

Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.

American Journal of Human Genetics
Aloysius DomingoD Cristopher Bragg
October 23, 2021

[Fifteen years of enzyme therapy in Pompe disease].

Revista de neurologia
J Díaz-Manera
October 23, 2021

Glycogen accumulation and phase separation drives liver tumor initiation.

Cell
Qingxu LiuDawang Zhou
October 23, 2021

Reversal of insulin resistance by Ficus benghalensis bark in fructose-induced insulin-resistant rats.

Journal of Ethnopharmacology
Pukar Khanal, B M Patil

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