نتایج جستجو برای: lysosomal storage

تعداد نتایج: 196223  

Journal: :iranian journal of child neurology 0
massoud houshmand 1. assistant professor of human molecular genetics, department of medical genetic, national institute for genetic engineering and biotechnology, tehran, iran seyed hassan tonekaboni 2.professor of pediatric neurology, pediatric neurology research center, shahid beheshti university of medical sciences,tehran, iran parvaneh karimzadeh professor of pediatric neurology, pediatric neurology research center, shahid beheshti university of medical sciences,tehran, iran omid aryani genetic counselor, medical genetic dep. special medical center, tehran, iran mahmoudreza ashrafi professor of pediatric neurology, growth and development research center, children´s medical center, tehran university of medical science, tehran, iran shadab salehpour associate professor of pediatric endocrinology and metabolism, shahid beheshti university of medical sciences, tehran, iran

how to cite this article: houshmand m, tonekaboni sh, karimzadeh p, aryani o, ashrafimr, salehpour sh, badv sh, shakiba m, alaee mr, farshid sh. lysosomal storage disease iniran. (report of molecular study). iran j child neurol autumn 2012; 6:4 (suppl. 1): 22.   pls see pdf.

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Journal: :iranian journal of child neurology 0
reza shiari 1.associate professor of pediatric rheumatology, shahid beheshti university of medical sciences, mofid children’s hospital, tehran-iran vadood javadi parvaneh 2. fellow of pediatric rheumatology, shahid beheshti university of medical sciences, mofid children’s hospital, tehran-iran

how to cite this article: shiari r, vadood javadi p. rheumatologic manifestations of lysosomal storage diseases. iran j child neurol autumn 2012; 6:4 (suppl. 1): 20. pls see pdf.

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Journal: :international journal of pediatrics 0
wajiha maan department of pediatric gastroenterology, hepatology and nutrition, golisano children hospital, upstate medical university, syracuse, new york, u.s.a. manoochehr karjoo department of pediatric gastroenterology, hepatology and nutrition, golisano children hospital, upstate medical university, syracuse, new york, u.s.a. mirza beg department of pediatric gastroenterology, hepatology and nutrition, golisano children hospital, upstate medical university, syracuse, new york, u.s.a.

gaucher disease (gd) is the most common type of lysosomal storage disorder and it is divided into three distinct subtypes. the authors here report four different cases of gaucher disease, with varying clinical manifestations, and the diagnosis of each established by the low level of beta-glucosidase enzyme as well as genetic dna testing. the study also highlights the importance of early diagnos...

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Journal: :iranian journal of child neurology 0
alireza rezayi 1. pediatric neurology research center, shahid beheshti university of medical sciences (sbmu), tehran, iran 2. pediatric neurology division, loghman hakim hospital, shahid beheshti university of medical sciences, tehran, iran

how to cite this article: rezayi ar. vitamin e and niemann–pick disease type c. iran j child neurol. 2015 autumn;9:4(suppl.1): 23. pls see pdf.

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Journal: :iranian journal of child neurology 0
mohammad ghofrani 1. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran 2.pediatric neurology center of excellence & pediatric neurology department sciences, shahid beheshti university of medical sciences, tehran, iran

how to cite this article: ghofrani m. lysosomal storage disease (lsds). iran j child neurol. 2015 autumn;9:4(suppl.1): 1. pls see pdf.

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Journal: :iranian journal of child neurology 0
marjan shakiba 1.associate professor of pediatric endocrinology and metabolism, shahid beheshti university of medical sciences, tehran, iran

how to cite this article: shakiba m. diagnosis in lysosomal disorders. iran j child neurol autumn 2012; 6:4 (suppl. 1):15- 16. pls see pdf.

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Journal: :iranian journal of child neurology 0
mohammad ghofrani

how to cite this article: ghofrani m. lysosomal storage disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):1-2.   for reading more pls see pdf

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Journal: :caspian journal of neurological sciences 0
fariborz rezaeitalab assistant professor, department of neurology, school of medicine, mashhad university of medical sciences, mashhad, iran reza boostani associate professor, department of neurology, school of medicine, mashhad university of medical sciences, mashhad, iran ali ghabeli-juibary neurologist, student research committee, school of medicine, mashhad university of medical sciences, mashhad, iran sara mali resident of neurology, department of neurology, school of medicine, mashhad university of medical sciences, mashhad, iran; [email protected]

pompe disease, also termed glycogen storage disease type ii or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (gaa), the glycogen degrading lysosomal enzyme. as a result, massive lysosomal glycogen deposits in the numerous organs including the muscles. in pompe disease weakness of truncal muscles is a prominent presentation which results in respiratory failure a...

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Journal: :genetics in the 3rd millennium 0
مریم بنی کاظمی maryam banikazemi pediatrics, department of neurology, new york university, ny, u.s.a.

lysosomal storage diseases (lsds) result from a genetic defect in synthesis and cellular transport of lysosomal enzyme to the lysosomes. lsds are progressive and may present at any age affecting multiple tissues and organ systems. they comprise a diverse group of over 40 clinically distinct inherited disorders. as a group they occur in approximately 1 in 5000 to 8000 births in the western socie...

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Journal: :iranian journal of child neurology 0
mohammad reza alaei pediatric endocrinology and metabolism department, mofid children hospital, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran

how to cite this article: alaei mr. preinatal types of niemann-pick disease type c. iran j child neurol. 2015 autumn;9:4(suppl.1): 12. pls see pdf.

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