Glycogen storage disease type V

Results: 10



#Item
1Inborn errors of carbohydrate metabolism / Nephrology / Hepatology / Organ failure / Medical emergencies / Glycogen storage disease type V / Rhabdomyolysis / Myoglobinuria / Statin / Medicine / Health / Anatomy

PLEASE TYPE POLICY TITLE HERE

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Source URL: www.schn.health.nsw.gov.au

Language: English - Date: 2015-05-30 10:05:51
2Syndromes / Medical genetics / Rare diseases / Molecular biology / Exome sequencing / Aniridia / DiGeorge syndrome / Retinitis pigmentosa / Glycogen storage disease type V / Health / Biology / Genetics

Sample Submission Form Testing Services for Rare Mendelian Disorders where Rare is Common

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Source URL: www.genedx.com

Language: English - Date: 2014-12-23 10:37:57
3Glycogen storage disease type II / Lysosomal storage disease / Acid alpha-glucosidase / Newborn screening / Screening / Medical genetics / Medicine / Health / Rare diseases

EVIDENCE REVIEW: POMPE DISEASE Prepared for: THE ADVISORY COMMITTEE ON HERITABLE DISORDERS IN NEWBORNS AND CHILDREN FINAL V[removed]

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Source URL: www.hrsa.gov

Language: English - Date: 2014-12-04 01:12:52
4Genetic genealogy / Rare diseases / Hepatology / Genetics / Glycogen storage disease type II / Glycogen storage disease type V / Lysosomal storage disease / Genotype / Acid alpha-glucosidase / Health / Inborn errors of carbohydrate metabolism / Medicine

ARTICLE The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease Paola de Filippi, PhD1, Sabrina Ravaglia, MD, PhD2, Bruno Bembi, MD3, Alfredo Costa,

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Source URL: www.nature.com

Language: English - Date: 2012-01-04 14:12:58
5Hepatology / Genetic genealogy / Rare diseases / Glycogen storage disease type V / Phosphofructokinase deficiency / Glycogen storage disease / Systemic primary carnitine deficiency / Myopathy / Myalgia / Health / Medicine / Inborn errors of carbohydrate metabolism

Facts About Metabolic Diseases of Muscle

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Source URL: mdausa.org

Language: English - Date: 2011-09-19 18:46:04
6Electrolyte disturbances / Medical emergencies / Inborn errors of carbohydrate metabolism / Organ failure / Rhabdomyolysis / Adenosine Monophosphate Deaminase Deficiency type 1 / Glycogen storage disease type V / Statin / Renal failure / Medicine / Health / Nephrology

Trauma Bytes January 2014 Volume 7, Issue 1 Trauma Coordinator’s Corner

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Source URL: www.osfsaintanthony.org

Language: English - Date: 2014-01-17 16:01:35
7Rare diseases / Genetic genealogy / Hepatology / Genetics / Glycogen storage disease type II / Glycogen storage disease type V / Lysosomal storage disease / Acid alpha-glucosidase / Duchenne muscular dystrophy / Health / Inborn errors of carbohydrate metabolism / Medicine

ARTICLE The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease Paola de Filippi, PhD1, Sabrina Ravaglia, MD, PhD2, Bruno Bembi, MD3, Alfredo Costa,

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2010-04-02 02:44:57
8Hepatology / Genetic genealogy / Rare diseases / Glycogen storage disease type V / Phosphofructokinase deficiency / Glycogen storage disease / Systemic primary carnitine deficiency / Myopathy / Myalgia / Health / Medicine / Inborn errors of carbohydrate metabolism

Facts About Metabolic Diseases of Muscle

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Source URL: mda.org

Language: English - Date: 2011-09-19 18:46:04
9Exercise physiology / Hepatology / Transferases / Inborn errors of carbohydrate metabolism / Muscular system / Glycogen storage disease type V / Glycogen phosphorylase / Creatine / Muscle / Biology / Anatomy / Medicine

McArdle Disease and Exercise Physiology

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Source URL: www.ncbi.nlm.nih.gov

Language: English
10Equidae / Inborn errors of carbohydrate metabolism / Hepatology / Equine polysaccharide storage myopathy / Rhabdomyolysis / Equine exertional rhabdomyolysis / Glycogen storage disease type V / Glycogen-branching enzyme deficiency / Glycogen storage disease / Medicine / Health / American Quarter Horses

IN-DEPTH: MUSCLE DISORDERS

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Source URL: www.ivis.org

Language: English - Date: 2011-11-28 13:21:15
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