Mucolipidosis Type II in Vietnam
نویسندگان
چکیده
منابع مشابه
New targets for old diseases: lessons from mucolipidosis type II
Lysosomal storage disorders (LSDs) are inherited diseases characterized by progressive intracellular accumulation of undigested macromolecules within the cell due to specific lysosomal defects. Lysosomal storage results in a global impairment ofmany lysosome‐dependent pathways (e.g. autophagy and endocytosis), leading to cellular dysfunction and death (Ballabio &Gieselmann, 2009). LSD patients ...
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References 1. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 5th ed. Washington, DC: American Psychiatric Association; 2013. 2. Varcin KJ, Nelson CA 3rd. A developmental neuroscience approach to the search for biomarkers in autism spectrum disorder. Curr Opin Neurol 2016;29:123‐9. 3. American Psychiatric Association. Diagnostic and Statistical Manual of...
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Mucolipidosis type IV is an autosomal recessive lysosomal storage disease of unknown etiology that causes severe neurological and ophthalmological abnormalities. In an attempt to obtain insight into the nature of the metabolic abnormality in this disorder, we prospectively evaluated 15 consecutive patients, aged 2 to 23 years, over a period of 22 months. The finding of iron deficiency in some o...
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UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is an a2b2c2 hexameric enzyme that catalyzes the synthesis of the mannose 6-phosphate targeting signal on lysosomal hydrolases. Mutations in the a/b subunit precursor gene cause the severe lysosomal storage disorder mucolipidosis II (ML II) or the more moderate mucolipidosis III alpha/beta (ML III a/b), while mutations in the ...
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ژورنال
عنوان ژورنال: Journal of mucopolysaccharidosis and rare disease
سال: 2016
ISSN: 2465-8936
DOI: 10.19125/jmrd.2016.2.1.31