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Duke glycogen storage disease laboratory

WebGlycogen storage disease (GSD) is a genetic condition in which the body has an enzyme problem and is not able to store or break down the complex sugar glycogen properly. GSD affects the liver, muscles and other areas of the body. Several types of GSD can occur. Symptoms and Causes Diagnosis and Tests Management and Treatment Prevention WebNov 1, 2024 · Large amounts of simple sugars as they will increase liver storage of glycogen; prolonged fasting; high-impact contact sports if significant hepatomegaly is present; drugs known to cause hypoglycemia such as insulin and insulin secretagogues (the sulfonylureas) or drugs known to mask symptoms of hypoglycemia such as beta …

Rebecca Koch, PhD, RDN, LDN - Clinical and …

WebOct 15, 2014 · Glycogen storage disease type IX (GSD-IX) is a group of at least four disorders characterized by a deficiency of the enzyme phosphorylase kinase. This enzyme is necessary to break down (metabolize) a type of complex sugar known as glycogen. Normally, glycogen is metabolized into a simple sugar known as glucose. WebMar 16, 2024 · View Deeksha Bali's business profile as Assistant professor at Duke University. Find contact's direct phone number, email address, work history, and more. ... North Carolina. Previously, Deeksha was a Scientific Advisory Board Mem ber at The Association for Glycogen Storage Disease. Read More . Contact. Deeksha Bali's … crew neck cardigans for women uk https://florentinta.com

A Study of Adeno-Associated Virus Serotype 8-Mediated Gene …

WebApr 19, 2006 · Liver and muscle glycogen concentrations, glycogen structure, and activities of GDE, phosphorylase, and glucose-6-phospatase were determined on snap frozen tissue samples by standard methods2,14,15 of the Glycogen Storage Disease Laboratory at Duke University Medical Center. Canine AGL cDNA Sequence … WebFeb 15, 2024 · Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice … WebMost individuals with glycogen storage disorder type II (GSD II, Pompe disease) and other glycogen storage disorders excrete glucotetrasaccharides in their urine. Measuring glucotetrasaccharide in the urine can be helpful when employed in conjunction with GAA enzyme activity assay and molecular genetic analysis of the GAA gene. crew housing west palm beach

Pompe Disease Dried Blood Spot Testing and GAA …

Category:Pompe Disease, Full Gene Analysis, Varies - Duke University Hospital

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Duke glycogen storage disease laboratory

HEX4 - Overview: Glucotetrasaccharides, Random, Urine

WebGlycogen storage disease type IIIa (GSD IIIa) is caused by a deficiency of glycogen debranching enzyme activity. Hepatomegaly, muscle degeneration, and hypoglycemia occur in human patients at an early age. Long-term complications include liver cirrhosis, hepatic adenomas, and generalized myopathy. WebRefer to the Targeted Genes and Methodology Details for Glycogen Storage Disease Gene Panel in Special Instructions for the most up to date list of genes included in this …

Duke glycogen storage disease laboratory

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WebHomepage DUHS Clinical Laboratories WebAt Duke, his research has primarily focused on the development of new therapy for inherited metabolic disorders, especially for the glycogen storage diseases. He is currently …

Web1)Development of new non-invasive laboratory diagnostic methods using enzymology and molecular diagnostic techniques for Glycogen Storage Diseases (GSDs) and Lysoosmal Storage Diseases (LSDs) like Pompe, Fabry, Gaucher, MPS - for early diagnosis and treatment modalities. WebPompe Disease Dried Blood Spot Testing and GAA Sequencing Program Testing Requisition Form Glycogen Storage Disease Laboratory, Pediatric Biochemical …

WebResearch Grants Awarded by the AGSD. Thanks to generous donations from GSD patients, their families and friends, the Association for Glycogen Storage Disease has had the … WebDuke Glycogen Storage Disease Laboratory Section Special Testing Specimen Requirements Collection Instructions Collect random urine specimen. Aliquot into 2 screw capped aliquots (if enough urine) and send to Specimen Processing frozen. Special Handling Specimen needs to be shipped frozen. It is only good for 4 hours at ambient …

WebMutations in Exon 3 of the Glycogen Debranching Enzyme Gene Are Associated with Glycogen Storage Disease Type III That Is Differentially Expressed in Liver and Muscle The Journal of clinical ...

WebDuke University Hospital. Jul 2024 - Present1 year 10 months. Durham, North Carolina, United States. Engaging in Glycogen Storage Disease … crew subscriptionWebJul 9, 2024 · Pompe disease (acid maltase deficiency; glycogen storage disease type II) is caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Our clinical laboratory began to offer a fluorometric dried blood spot (DBS)-based GAA activity assay for Pompe disease in 2006 after the FDA approv … crew socks women colorWebRESEARCH INTERESTS A multidisciplinary approach to care of individuals with genetic disorders in conjunction with clinical and bench research that contributes to: 1) An … crew sleeping quarters