نتایج جستجو برای: lipid disorders

تعداد نتایج: 814936  

2015
Katrina J. Llewellyn Naomi Walker Christopher Nguyen Baichang Tan Lbachir BenMohamed Virginia E. Kimonis Angèle Nalbandian Udai Pandey

The discovery of effective therapies and of disease mechanisms underlying valosin containing protein (VCP)-associated myopathies and neurodegenerative disorders remains elusive. VCP disease, caused by mutations in the VCP gene, are a clinically and genetically heterogeneous group of disorders with manifestations varying from hereditary inclusion body myopathy, Paget's disease of bone, frontotem...

Journal: :Pediatric endocrinology reviews : PER 2007
Anthony Luder

CATEGORIES ● Screening for Inborn Errors of Metabolism ● Hyperphenylalaninaemias and Biopterin Defects ● Organic Acid Disorders ● Other Amino Acid Disorders ● Fatty Acid Oxidation Defects ● Mitochondrial Disorders ● Carbohydrate Disorders ● Urea Cycle Disorders ● Purines and Pyrimidine Disorders ● Lipidoses / Fabry Disease ● Peroxisomal Disorders ● Metal and Vitamin Disorders ● Congenital Anoma...

Journal: :Diabetes care 2003
Francine R. Kaufman Silva Arslanian Gerald Berenson Nathaniel G. Clark Samuel Gidding Kenneth Lee Jones Alan R. Sinaiko

M any studies have demonstrated that the atherosclerotic process begins in childhood in association with high blood cholesterol levels (1–3). Lipid levels show a strong familial aggregation that has both a genetic and environmental component (4). Monogenic disorders including familial hypercholesterolemia and familial combined hyperlipidemia are expressed in childhood, although adverse diet, po...

2017
Prakrit V Jena Daniel Roxbury Thomas V Galassi Leila Akkari Christopher P Horoszko David B Iaea Januka Budhathoki-Uprety Nina Pipalia Abigail S Haka Jackson D Harvey Jeetain Mittal Frederick R Maxfield Johanna A Joyce Daniel A Heller

Lipid accumulation within the lumen of endolysosomal vesicles is observed in various pathologies including atherosclerosis, liver disease, neurological disorders, lysosomal storage disorders, and cancer. Current methods cannot measure lipid flux specifically within the lysosomal lumen of live cells. We developed an optical reporter, composed of a photoluminescent carbon nanotube of a single chi...

Journal: :Trends in molecular medicine 2006
Pablo V Escribá

Although most drugs bind to proteins and regulate their activity, some drugs act through a new therapeutic approach called membrane-lipid therapy and bind to lipids, thus modulating the structure of membranes. Most cellular functions are highly dependent on the lipid environment because they are controlled by proteins in or around membranes. The wide variety of cell and organelle membranes and ...

Journal: :Turk Kardiyoloji Dernegi Arsivi-Archives of the Turkish Society of Cardiology 2018

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