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View article: A novel variation of gamt in cerebral creatine deficiency syndrome, first complete homozygous deletion of GAMT
A novel variation of gamt in cerebral creatine deficiency syndrome, first complete homozygous deletion of GAMT Open
Cerebral Creatine Deficiency Syndromes (CCDS) are congenital metabolic disorders in the creatine metabolism pathway. In this study, we evaluated the clinical, phenotypic, radiological and genetic features of patients with CCDS. We tried to…
View article: A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency
A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency Open
Background. Lysosomal acid lipase deficiency (LAL-D), also known as cholesteryl ester storage disease or Wolman disease, is a multi-systemic autosomal recessive genetic disorder caused by mutations in the lysosomal acid lipase gene (LIPA).…