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ACMG PRACTICE GUIDELINES Glycogen Storage Disease Type III diagnosis and
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Document Date: 2011-12-06 13:06:03

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City

Gainesville / Groningen / Bethesda / Durham / New York / Jacksonville / /

Company

Hispanics / stem- From / Caucasians / Africans / GenBank / Asians / GSD I.37 Laboratory / /

Country

Netherlands / United States / /

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Event

Product Issues / /

Facility

College of Medical Genetics / Columbia University Medical Center / University of Florida College / University Medical Center Groningen / University of Texas Southwestern Medical Center / LABORATORY DIAGNOSTIC TESTING RECOMMENDATIONS / Nemours Children’s Clinic / Duke University Medical Center / /

IndustryTerm

imaging / energy / food groups / splice site / medical genetic services / beverage / carrier testing / Online Metabolic / treatment of diabetes / diagnostic algorithms / organ systems / serial echo imaging / correct processing / echo imaging / /

MedicalCondition

micronodular cirrhosis / hypertrophic cardiomyopathy / developed adenomas / phosphorylase kinase deficiency / diphosphatase deficiency / asymptomatic hypoglycemia / infantile Pompe disease / Myopathy / cirrhosis / hepatitis B / Limb-girdle muscular dystrophy / galactosemia / portal venous hypertension / overt cardiac dysfunction / vascular dysfunction / injury / glucosidase deficiency / multisystem disorder / different subtypes Disorders / liver cirrhosis / diarrhea / type 2 diabetes mellitus / hepatitis / exertional muscle contractures / progressive liver cirrhosis / Fasting hypoglycemia / glycogen storage disorders / metabolic disorders / end-stage liver disease / illness / liver disease / hypoglycemia / proximal myopathy / LVH / early coronary artery disease / glycogen synthase deficiency / Atherosclerosis Hyperlipidemia / hyperinsulinism / adenoma / intercurrent illness / cardiac hypertrophy / inflammatory myopathy / cardiomyopathy / transferase deficiency / hepatocellular carcinoma / early atherosclerosis / endothelial dysfunction / Danon disease / Forbes disease / diastolic dysfunction / diabetes / documented growth hormone deficiency / Gaucher disease / GDE deficiency / proximal tubular dysfunction / myositis / exercise-induced muscle cramps / valvular disease / significant LVH / osteoporosis / IIIb disease / minimal periportal fibrosis / atrial fibrillation / Severe hypoglycemia / infection / deficiency / glucose-6phosphase deficiency / hepatocellular adenomas / variable skeletal myopathy / storage disorders / serious arrhythmia / hypercholesterolemia / hepatocellular injury / fibrosis / disorders / variable cardiomyopathy / autosomal recessive disease / asymptomatic cardiomyopathy / profound ketosis / Primary liver diseases / McArdle disease / storage disease / sometimes dilated cardiomyopathy / large ketosis / fatty acid oxidation disorders / liver dysfunction / cardiac failure / variable myopathy / severe infantile cardiomyopathy / both disorders / bloating / Muscle weakness / systolic dysfunction / hepatic dysfunction / primary cardiac disorders / widespread myopathy / symptomatic cardiomyopathy / fatigue / Glycogen storage disease / LV diastolic dysfunction / both centrilobular and portal-based fibrosis / periportal septal fibrosis / late onset Pompe disease / MS / hypoalbuminemia / motor neuron disease / Pompe disease / primary hepatic diseases / myasthenia gravis / muscle atrophy / enzyme deficiency / arrhythmia / congestive heart failure / insulin resistance / adenomas / hypertension / limit dextrinosis / disease / atherosclerosis / newborn screening disorders / Hepatic adenomas / renal tubular acidosis Disorders / hypertriglyceridemia / chronic liver disease / cardiac arrhythmias / rare disease / hereditary fructose intolerance / acid alpha glucosidase deficiency / hepatic adenoma / Niemann-Pick disease / Cori disease / symptomatic congestive heart failure / hyperlipidemia / rhabdomyolysis / overt systolic dysfunction / ketosis / severe fasting hypoglycemia / heart failure / autoimmune disease / myopathy Hypotonia / allelic disorders / respiratory insufficiency / fatty liver / metabolic disease / severe cardiomyopathy / phosphorylase deficiency / Respiratory distress / /

MedicalTreatment

enteral feeding / Surgery / Physical therapy / body piercing / liver transplant / hormone therapy / counseling / /

Organization

University of Texas Southwestern Medical Center / Dallas / Columbia University Medical Center / 10American College of Medical Genetics / Department of Pediatrics / University of Florida / Team / Duke University Medical Center / /

Person

Van Creveld / Michael S. Watson / Lane Rutledge / Priya S. Kishnani / Laura E. Case / Snappes Creveld / Mark Tarnopolsky / Stephanie L. Austin / Wendy K. Chung / Lisa D. Hobson-Webb / Yuan-Tsong Chen / Stephanie Burns Wechsler / Ronald Haller / William Rhead / Joseph Wolfsdorf / David A. Weinstein / Pamela Arn / Barbara Illingworth / G. Peter A. Smit / Anne Boney / Alastair D. Smith / /

Position

metabolic specialist / metabolic dietitian / cardiologist / neuromuscular specialist / team member / experienced physician / physical therapist / occupational therapist / genetic counselor / and a metabolic dietitian / /

Product

glucagon / vitamin D / III / debranching enzyme activity / enzyme activity / /

ProvinceOrState

New York / Mississippi / Texas / Maryland / Florida / North Carolina / /

Technology

magnetic resonance imaging / genotype / alpha / tomography / Ultrasound / transplantation / /

URL

www.argostarch.com / /

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