Rare Variant of Lipid Storage Disorders

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Rare variant of lipid storage disorders.

I N 1954 SAWITSKY, HYMAN AND HYMAN reported an unidentified lipid storage disorder in two young adults characterized by the presence in the bone marrow smear of large histiocytes with numerous blue staining cytoplasmic granules.’ By 1966 only six such cases had been reported in the literature.25 A summary of clinical and laboratory findings of these cases were compiled and discussed by Thompson...

متن کامل

Lysosomal exocytosis and lipid storage disorders.

Lysosomes are acidic compartments in mammalian cells that are primarily responsible for the breakdown of endocytic and autophagic substrates such as membranes, proteins, and lipids into their basic building blocks. Lysosomal storage diseases (LSDs) are a group of metabolic disorders caused by genetic mutations in lysosomal hydrolases required for catabolic degradation, mutations in lysosomal me...

متن کامل

Rare Variant of Lycanthropy and Ecstasy

Abstract Background: Lycanthropy is an unusual belief or delusion in which the patient thinks that he/she has been transformed into an animal. In rare cases, the patient believes that another person has been transformed into an animal. Case Report: We report a patient with an uncommon variant of lycanthropy is introduced. The symptoms appeared after consumption of ecstasy. This show...

متن کامل

Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report

BACKGROUND Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae. CASE PRESENTATION We present a...

متن کامل

Rare Variant of Lycanthropy and Ecstasy: Case Report

Lycanthropy is an unusual belief or delusion in which the patient thinks that he/she has been transformed into an animal. In rare cases, the patient believes that another person has been transformed into an animal. In this case report, a patient who had an uncommon variant of lycanthropy is introduced. The patient’s symptoms had appeared after consumption of ecstasy. This shows the occurrence o...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Blood

سال: 1970

ISSN: 0006-4971,1528-0020

DOI: 10.1182/blood.v35.4.533.533