Pompe Disease

Der Morbus Pompe, auch als Pompe’sche Krankheit oder als Saure-Maltase-Mangel bezeichnet, gehört zur Gruppe der Glykogenspeicherkrankheiten und wird als Typ II klassifiziert (siehe auch lysosomale Speicherkrankheit). ... Read Article

What Are Digestive Enzyme Supplements - About.com Health
Are you thinking about taking a digestive enzyme to get rid of digestive symptoms? Find out which type might be best for you. ... Read Article

Rehabilitation Management Of Pompe Disease
Rehabilitation Management of Pompe Disease From Early Childhood Through Adulthood – a multi-modality, multi-disciplinary approach Gregory T. Carter, MD, MS ... Visit Document

Acid Alpha-glucosidase Deficiency (Pompe Disease)
Acid Alpha-Glucosidase Deficiency Fukuda et al. 75 Similar morphologic changes in skeletal muscle fibers were observed in another mouse model of Pompe ... Fetch Document

THE SIGNS AND SYMPTOMS OF POMPE DISEASE
THE SIGNS AND SYMPTOMS OF POMPE DISEASE disease may appear at any time from inf. Pompe disease is a rare progressive disorder that is genetically inherited or passed on to ... Retrieve Full Source

Looking Through A Father’s Eyes - UF CPET
Looking through a Father’s Eyes 1? KEY QUESTION(S): • What is Pompe disease? • What is the fundamental biology of the disease? TIME ESTIMATE: ... View Doc

Pompe Social Patient Meeting - Unitedpompe.com
Pompe Social & Patient Meeting Friday, April 20, 2012 Pompe Disease Registry Respiratory Complications & Respiratory Muscle Strength Training (RMST) Antibodies in Pompe disease & the Importance of Monitoring MRI Surveillance in Pompe disease ... Access Full Source

Newborn Screening Grand Rounds. Continuing Education for Multiple Disciplines will be provided for this event. Join us for a Webinar on . July 7, 2014 ... Retrieve Doc

For Pompe Disease - Wadsworth Center
What is newborn screening? Every state has a newborn screening program to identify infants with rare disorders, which would not usually be detected at birth. ... View Document

Newborn Screening ACT Sheet Pompe Disease (Glycogen Storage ...
Aimer: This guideline is designed primarily as an educational resource for clinicians to help them provide quality medical care It should not be considered ... Get Document

The 7 Most Expensive Prescription Drugs - About.com Money
7. Myozyme Myozyme is a treatment for Pompe, a rare and sometimes fatal disease that attacks the heart and skeletal muscles. When it affects infants, mortality often strikes in the first year. ... Read Article

Pompe Disease - Wadsworth Center
And/or Immunology specialists. These assessments may help determine when treatment should be initiated. The infant’s cross reactive immunologic ... Doc Retrieval

Pompe Disease 101 - APHL
2/27/2014 1 Pompe Disease 101 Clinical Aspects and Screening Methods Part 2: Pompe Disease: Newborn Screening Methodology February 26th, 2014 ... View Full Source

Pompe - Wikipedia, The Free Encyclopedia
Glycogen storage disease type II, also called Pompe disease; Rue de la Pompe, a street in Paris, France, which was named after the pump which served water to the castle of Muette; ... Read Article

Primary ICD-9/ICD-10 Code: Pompe Disease Other:
4. Does the patient have infantile- onset Pompe disease? Yes No Myozyme ... Access This Document

Pompe Disease Dried Blood Spot Testing And GAA Sequencing ...
Pompe Disease Dried Blood Spot Testing and GAA Sequencing Program Testing Requisition Form Glycogen Storage Disease Laboratory, Pediatric Biochemical Genetics Laboratory Duke University Hospital PATIENT INFORMATION SAMPLE INFORMATION ... Fetch Content

Pompe Disease - YouTube
This video is a shortened version of the movie "Extraordinary Measures" created to be a part of the motivation exercise for Muscular System lesson ... View Video

Pompe Disease Diagnostic Testing
Diagnostic Labs for Pompe Disease (also known as Acid Maltase Deficiency) For additional information about laboratories that offer diagnostic testing for Pompe Disease, visit www.genetests.org ... View Document

BIOCHEMICAL GENETICS LABORATORY GLYCOGEN STORAGE DISEASE ...
Version date: 01/30/2013 biochemical genetics laboratory glycogen storage disease laboratory duke university hospital 801 capitola drive suite 6 durham nc 27713 ... Access Full Source

Information Paper On Pompe Disease In The Asia Pacific Region
Page 2 causes progressive muscle weakness throughout the body and cardiac or respiratory complications are the main causes of death for Pompe Disease patients. ... Read Document

Pompe Disease In Infants: Improving The Prognosis By Newborn ...
Pompe disease (glycogen storage dis-ease type II, acid maltase deficiency) was first described by Dr Johannes Pompe in 1932 in an infant who had ... Retrieve Full Source

Community With A Heart Underway For Year
Often times, it’s the little things taken for granted by most that make a world of difference to others. ... Read News

Late-Onset Pompe Disease: A Review - University Of Kansas
Late-Onset Pompe Disease: A Review Omar Jawdat, MD Neuromuscular Fellow University of Kansas Medical Center 6/27/2014 1 ... Retrieve Content

An Overview Of Pompe Disease And Clinical Manifestations
• Diagnosis of Pompe disease has to be timely to maximize the benefit of therapy • Laboratory abnormalities include moderately elevated CK and transaminases in most patients • Muscle biopsy is obsolete for the diagnosis of Pompe disease ... Doc Retrieval

The Pompe Predicament - UF CPET
The Pompe Predicament How a Community of Scientists and Patients are Fighting for a Cure Pompe disease affords the rare opportunity for students to consider multiple biological ... Doc Retrieval

Glycogen Storage disease Type II - Wikipedia, The Free ...
Glycogen storage disease type II (also called Pompe disease / ˈ p ɒ m p ə / or acid maltase deficiency) is an autosomal recessive metabolic disorder [1] which damages muscle and nerve cells throughout the body. ... Read Article

Pompe Disease: The Sphinx Of Science - UNC Charlotte
Pompe 2 Abstract: For nearly a century, scientists have been wandering a medical maze. The study of a fascinating disease classified as Glycogen Disease Type II (Pompe Disease), has ... Content Retrieval