Successful cardiovascular surgery experience and enzyme replacement therapy in type 3C Gaucher disease

13th Annual Research Meeting on We're Organizing Research for Lysosomal Diseases (WORLD) -- FEB 13-17, 2017 -- San Diego, CAWOS: 000393734000243

A case with Pallister-Killian syndrome misdiagnosed as mucopolysaccharidosis

We're Organizing Research for Lysosomal Diseases (WORLD) Symposium -- FEB 05-09, 2018 -- San Diego, CAWOS: 000424963800257

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I

Background: Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1.3 cyclohexanedione (NTBC) treatment, the prognosis improved with reduced rate of complications

Early onset alpha-mannosidosis: A Turkish case

We're Organizing Research for Lysosomal Diseases (WORLD) Symposium -- FEB 05-09, 2018 -- San Diego, CAWOS: 000424963800258

A Case of Glutaric Aciduria Type I with a Novel Mutation

Glutaric aciduria type I is an autosomal recessive inherited disorder caused by the deficiency of glutaryl CoA dehydrogenase. The incidence of the disease is 1/100.000. Glutaryl CoA dehydrogenase gene is located on locus 19p13.2. More than 200 mutations have been described for this gene. Most common mutation in the population is C1240T. Clinical symptoms included neurological regression complications such as loss of sucking and swallowing reflexes choreoathetosis, seizures, rigidity and opisthotonos. In treatment high-carbohydrate, low-protein diet and carnitine is given. We would like to report this interesting case in order to present a new mutation for glutaric aciduria type I. [Cukurova Med J 2013; 38(4.000): 809-812

Gaucher disease type II or type III: a case report of an intermediate form with a new mutation

10th Annual World Symposium of the Lysosomal-Disease-Network (LDN) -- FEB 10-13, 2014 -- San Diego, CAWOS: 000330746000220Lysosomal Dis Networ

Chanarin-Dorfman syndrome: A case report

12th Annual WORLD Symposium -- FEB 29-MAR 04, 2016 -- San Diego, CAWOS: 000370888100226

Mucopolysaccharidosis type VI, 9 sibling pairs and 1 set of three siblings: single center experience from Turkey

We're Organizing Research for Lysosomal Diseases (WORLD) Symposium -- FEB 05-09, 2018 -- San Diego, CAWOS: 000424963800259

Cukurova University experience of lysosomal diseases in adulthood: Report of 57 patients

We're Organizing Research for Lysosomal Diseases (WORLD) Symposium -- FEB 05-09, 2018 -- San Diego, CAWOS: 000424963800256