نتایج جستجو برای: mucopolysaccharidosis

تعداد نتایج: 2370  

Journal: :The Application of Clinical Genetics 2016

Journal: :Orphanet Journal of Rare Diseases 2017

Journal: : 2021

: Mucopolysaccharidosis (MPS) is a rare and heterogeneous metabolic disorder with wide phenotypic distributions throughout the world. This study aimed to determine genetic polymorphisms, contributing most common types of MPS in 19 unrelated Iranian patients. The sequence coding region exon‐intron boundaries genes were analyzed by Sanger sequencing method. We used biochemical clinical characteri...

Journal: :Revista do Hospital das Clinicas 2000
L M Albano S S Sugayama D R Bertola C E Andrade C Y Utagawa F Puppi H B Nader L Toma J Coelho S Leistner M Burin R Giugliani A K Chong

UNLABELLED The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in ...

2017
Byron Breedlove

the center of the San Joaquin Valley, on January 24, 1875. He had asthma as a child and spent much of his time drawing. In 1891, when he was 16, Dixon sent two of his sketchbooks to Frederic Remington, an artist he admired. Remington encouraged him, replying, “You draw better at your age than I did at the same age. If you have the ‘sand’ to overcome difficulties, you could be an artist in time....

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