نتایج جستجو برای: gaucher type 1

تعداد نتایج: 3648308  

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

how to cite this article: salehpour sh. clinical manifestations of type 1 gaucher disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):13-14. pls see pdf. refe r ences 1. beutler e, grabowski ga. gaucher disease. in: metabolic and molecular bases of inherited disease, scriver cr, beaudet al, sly ws, valle d (eds), mcgraw-hill, new york 2001: 3635. 2. cox tm, schofield jp.   gaucher’s diseas...

Journal: :iranian journal of child neurology 0
mohammad mehdi taghdiri 1. associate professor of pediatric neurology, pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran 2. associate professor of pediatric neurology, department of pediatric neurology, mofid children hospital, shahid beheshti university of medical sciences, tehran, iran

how to cite this article: taghdiri mm. type 2 gaucher disease (acute infantile gaucher disease or neuropathic type). iran j child neurol autumn 2012; 6:4 (suppl. 1):12.   pls see pdf.

2015
Maria-Domenica Cappellini

Touch MEDical MEDia 15 Abstract Gaucher disease, which is caused by an inherited glucocerebrosidase deficiency, is the most prevalent lysosomal storage disease worldwide. Estimated prevalence of Gaucher disease is 1:50,000 in most countries and the disease has its highest incidence in the Ashkenazi Jewish population. Type 1 (non-neuropathic) Gaucher disease is by far the most common form. Gauch...

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...

Journal: :Sri Lanka Journal of Child Health 2009

Journal: :American Journal of Hematology 2008

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...

2011
Francis Y. M. Choy Tessa N. Campbell

Gaucher disease is an inherited disorder caused by a deficiency in the lysosomal hydrolase glucocerebrosidase. There is a wide spectrum of clinical presentations, with the most common features being hepatosplenomegaly, skeletal disease, and cytopenia. Gaucher disease has been classified into three broad phenotypes based upon the presence or absence of neurological involvement: Type 1 (nonneuron...

2016
Gaetano Giuffrida Rita Lombardo Ernesto Di Francesco Laura Parrinello Francesco Di Raimondo Agata Fiumara

BACKGROUND Gaucher disease is one of the most common lipid-storage disorders, affecting approximately 1 in 75,000 births. Enzyme replacement therapy with recombinant glucocerebrosidase is currently considered the first-line treatment choice for patients with symptomatic Gaucher disease type 1. Oral substrate reduction therapy is generally considered a second-line treatment option for adult pati...

Journal: :Journal of Nippon Medical School = Nippon Ika Daigaku zasshi 2014
Makoto Migita Sakae Kumasaka Tae Matsumoto Hanako Tajima Takahiro Ueda Atsuyuki Yamataka

Gaucher disease is an autosomal recessively inherited lysosomal storage disease in which a deficiency of glucocerebrosidase is associated with the accumulation of glucocerebroside in reticuloendothelial cells. Clinically, 3 types of Gaucher disease have been defined on the basis of the presence or absence of neurological symptoms. The frequency of gallbladder involvement is reportedly greater i...

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