Danon Disease Diagnosis

Enzymatic Screening And Diagnosis Of Lysosomal Storage Diseases
Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases Chunli Yu, MD;1* Qin Sun, Danon disease), transporters for substrates (e.g., Salla disease), enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C). J Inherit Metab Dis. 1993;16(2):465-472. ... Return Doc

Genetic Testing: How It Is Used Fact Sheet For Healthcare
Confirm a diagnosis of a genetic condition, and to screen newborns for conditions such as phenylketonuria (PKU), cancer or Parkinson’s Disease that affect multiple relatives in several generations of a family; National Institutes of Health Genetic Testing – 1 ... View Full Source

The Physician’s Guide To Pompe Disease
The National Organization for Rare Disorders NORD Guides for Physicians The Physician’s Guide to Pompe Disease (Glycogen Storage Disease, Type II; ... Retrieve Full Source

Non-neuronopathic Lysosomal Storage Disorders: Disease ...
Cardiomyopathy Fabry disease, Danon disease Stroke Fabry disease, fucosidosis Interstitial lung disease Gaucher types 1 and 3, Sedel F, Pineda M, et al. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type. Child Neurol 2012;78(20):1560e7 [Until recently, ... Retrieve Content

Danon disease - Wikipedia, The Free Encyclopedia
Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. Danon disease is associated with heart muscle abnormalities resembling severe hypertrophic cardiomyopathy. ... Read Article

Generalized Lysosome-Associated Membrane Protein-2 Defect ...
Patients with Danon disease might escape the diagnosis unless mutation identification is obtained: in our hetero-zygote patient, muscle pathology and LAMP-2 protein analysis was inconclusive, and molecular diagnosis was pursued because of her affected son. ... Doc Retrieval

Celiac Disease Genetic Testing
However, genetic testing for celiac disease can provide another piece to the diagnostic puzzle, especially in cases where your diagnosis isn't clear-cut or where you're trying to determine future testing needs. ... Read Article

Pompe Disease Awareness Resource - LWW Journals
POMPE DISEASE SYMPTOMS Tear out this checklist to discuss symptoms with your doctor Infantile- Onset : ¨n Feeding problems ¨n Poor weight gain ... Get Content Here

An Autophagic Vacuolar Myopathy-Like Disorder Presenting As ...
The vacuolar membranes, thus eliminating Danon disease as a definitive diagnosis. Prominent liver involvement has not been described in the AVMs, and our case did not show the skeletal muscle changes that characterize these disorders [1]. ... Access Document

New Molecular Genetic Tests In The Diagnosis Of Heart Disease
The Diagnosis of Heart Disease Matthew S. Lebo, PhD a,b *, Samantha M. Baxter, MS, CGC Danon disease, Friedreich ataxia, mitochondrial disorders, and myopathies. Dilated Cardiomyopathy Phenotype DCM is characterized by ventricular dilatation and impaired systolic function that can ... Read More

Comments On The 2014 ESC Guidelines On The Diagnosis And ...
Comments on the 2014 ESC Guidelines on the Diagnosis and Management of Hypertrophic Cardiomyopathy. A Critical View From the Perspective Danon disease, etc), neuromuscular diseases, familial amyloid polyneuropathy (related to transthyretin), and congenital disorders (Noonan syndrome, ... Content Retrieval

Cardiomyopathy And Arrhythmia Gene Panel
• Confirm a suspected diagnosis of mitochondrial myopathy or a mitochondrial disorder 002294 309060 XL Danon disease Unknown . LDB3 . LIM domain binding 3 001080116 605906 AD DCM, myofibrillar myopathy, LVNC 1% DCM . LMNA . ... Fetch Content

MYOCARDIAL DISEASE New Approaches To The Clinical diagnosis ...
MYOCARDIAL DISEASE New approaches to the clinical diagnosis of inherited heart muscle disease Luis Rocha Lopes, Perry Mark Elliott Additional references are ... Visit Document

PERIODICPARALYSIS Differential Diagnosis And Important ...
Differential Diagnosis and Important Diagnostic Tests By Jacob Levitt, MD, FAAD President, Periodic Paralysis Association Vice Chair, Dermatology ... Document Viewer

Late Onset Lysosomal Myopathies - Kenes Group
ERT at diagnosis if there is evidence of clinical symptoms and have to be • Danon disease is an X-linked dominant lysosomal disease, initially described by Danon et al. in 1981, ... Read Here

Will The REAL Anti-Inflammatory Diet Please Stand Up?
Kirstin Keilty, MS, CNS "Inflammation" is the one of the latest buzzwords in the health and medical industry. Inflammation has been linked to cardiovascular disease, to cancer, to diabetes and metabolic syndrome, to low-grade infections, even to obesity. Most Americans, even if they ... View Video

Glycogen Storage Diseases And Cardiomyopathy
If a diagnosis of Danon’s disease is made, all first-degree relatives should be offered Sugie K, Koori T, Yamamoto A, et al. Characterization of Danon disease in a male patient and his affected mother. Neuromuscul Dis-ord 2003;13:708-11. the authors reply: ... Access This Document

Cardiomyopathy. Acid Maltase Activity Of The Muscle Was ...
Has recently been reported to be deficient in muscles of patients with Danon disease. , PAS, positivity (Fig. 1c) at first led to a diagnosis of acid maltase deficiency. However the activity of muscular acid maltase was within normal limits. ... Get Content Here

The Contemporary Role Of Electron Microscopy In Neuromuscular ...
The contemporary role of electron microscopy in neuromuscular pathology Giovanna Cenacchi, Electron microscopy has a strategic position in the diagnosis of neuromuscular disorders. In acid maltase deficiency, AMD, 1 Danon disease, 1 ceroid lipofuscinosis, CL, and 4 drug-induced myopathy. ... View This Document

Differential Diagnosis And Potential Misdiagnoses Of Pompe ...
Analysis and genetic testing. 3 Additional muscle diseases that must be considered in the differential diagnosis of Pompe disease are those presenting with vacuoles in muscle biopsy samples, namely myofibrillar myopathies, inclusion body myositis, and Danon disease . Results of muscle biopsy ... View Document

Diagnostic Confirmation And Screening Protocols
Fabry disease (AFD), Hunter syndrome (MPS-II) andDanon disease. Biochemical testing is available for most LSDs, enabling diagnostic confirmation in suspected clinical cases, and prenatal diagnosis can also way to establish the diagnosis of Danon disease.13 ... Access Full Source

Hypertrophic Cardiomyopathy – an Overview Introduction Hypertrophic cardiomyopathy (HCM), as Danon disease – presents differently in Diagnosis of HCM is most commonly based ... View Doc