A reappraisal of Gaucher disease-diagnosis and disease management algorithms
نویسندگان
چکیده
منابع مشابه
[Gaucher disease--guidelines for diagnosis and management of adult patients].
Gaucher disease is an autosomal recessive disorder, characterized by decreased levels of the lysosomal enzyme glucocerebrosidase. This deficiency results in a decreased breakdown of this glycosphingolipid glucocerebroside, which accumulates in the lysosomes of the monocyte-macrophage system. It is the most common form of sphingolipidosis. Clinically, the principle signs of Gaucher's disease are...
متن کاملPrevalence and management of Gaucher disease
Correspondence: Gregory A Grabowski Cincinnati Children’s Hospital Medical Center, Division of Human Genetics, 3333 Burnet Avenue, MLC 4006, Cincinnati, OH 45229-3039, USA Tel +1 513 636 7290 Fax +1 513 636 2261 email [email protected] Abstract: Gaucher disease is a phenotypically heterogeneous autosomal recessively inherited lysosomal storage disease, resulting from deficient activity o...
متن کاملA survey of clinical practice patterns in diagnosis and management of Cushing\'s disease in Iran
Background: Cushing's disease is the most prevalent cause of endogenous adrenocorticotrophic hormone hypersecretion. The aim of this study was to document the current clinical practice pattern in the management of Cushing's disease by Iranian Endocrinologists to determine their opinions and compare them with the current clinical practice guidelines. Methods: An eight-item questi...
متن کاملDifficulties in the diagnosis and management of alveolar hydatid disease: A case series
Background: Alveolar echinococcosis (AE) is a chronic, rare and sometimes lethal parasitic infection in humans, caused by the larval stage of the fox tapeworm Echinococcus multilocularis. This study aimed to investigate the clinical aspects and treatment outcomes of patients with alveolar hydatid disease. Methods: The medical records of patients with alveolar echinococcosis admitted between ...
متن کاملAn Approach to Management of Health Care and Medical Diagnosis Using of a Hybrid Disease Diagnosis System
Introduction: In order to simplify the information exchange within the medical diagnosis process, a collaborative software agent’s framework is presented. The purpose of the framework is to allow the automated information exchange between different medicine specialists. Methods: This study presented architecture of a hybrid disease diagnosis system. The architecture employed a learning...
متن کاملذخیره 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: American Journal of Hematology
سال: 2010
ISSN: 0361-8609
DOI: 10.1002/ajh.21888