Pompe disease diagnosis and management guideline

Genetics in Medicine

Volumn 8, Issue 5, 2006, Pages 267-288

  Kishnani, Priya S ^a   Steiner, Robert D ^b   Bali, Deeksha ^a   Berger, Kenneth ^c   Byrne, Barry J ^d   Case, Laura ^a   Crowley, John F ^e   Downs, Steven ^f   Howell, R Rodney ^g   Kravitz, Richard M ^a   Mackey, Joanne ^p   Marsden, Deborah ^h   Martins, Anna Maria ⁱ   Millington, David S ^a   Nicolino, Marc ^j   O'Grady, Gwen ^a   Patterson, Marc C ^k   Rapoport, David M ^l   Slonim, Alfred ^m   Spencer, Carolyn T ^d   Tifft, Cynthia J ⁿ   Watson, Michael S ^o   more..

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^e Amicus Therapeutics   (United States)

^f INDIANA UNIVERSITY   (United States)

^g UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^h HARVARD MEDICAL SCHOOL   (United States)

ⁱ FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^j HÔPITAL DEBROUSSE   (France)

^k Och Spine at New York Presbyterian Hospitals   (United States)

^l BELLEVUE HOSPITAL CENTER   (United States)

^m NewYork Presbyterian Hospital   (United States)

ⁿ CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^o American College of Medical Genetics   (United States)

^p NONE

more..

Author keywords

Acid maltase deficiency; Disease type II; Glycogen storage; Lysosomal storage disease; Management guidelines; Pompe disease

Indexed keywords

ADRENALIN; ADRENERGIC RECEPTOR STIMULATING AGENT; ALANINE; ANESTHETIC AGENT; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; BETA ADRENERGIC RECEPTOR STIMULATING AGENT; BISPHOSPHONIC ACID DERIVATIVE; BRANCHED CHAIN AMINO ACID; BRONCHODILATING AGENT; DIGOXIN; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DIURETIC AGENT; ETOMIDATE; GLUCAGON; GLUCAN 1,4 ALPHA GLUCOSIDASE; INFLUENZA VACCINE; INOTROPIC AGENT; KETAMINE; LEVALBUTEROL; LOOP DIURETIC AGENT; PALIVIZUMAB; PNEUMOCOCCUS VACCINE; PROPOFOL; SALBUTAMOL; STEROID; THIOPENTAL;

ABDOMINAL WALL MUSCULATURE; ASTHMA; CALCIUM URINE LEVEL; CARDIOMYOPATHY; CENTRAL NERVOUS SYSTEM; CONSENSUS DEVELOPMENT; COUGHING; DEFORMITY; DIAGNOSTIC TEST; DIFFERENTIAL DIAGNOSIS; ELECTROPHYSIOLOGY; ENZYME REPLACEMENT; GENE MUTATION; GENETIC COUNSELING; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 2; HEART ARRHYTHMIA; HEART LEFT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HUMAN; HYPERCALCIURIA; INFLUENZA; LABORATORY TEST; LUNG DISEASE; LUNG FUNCTION; LYSOSOME STORAGE DISEASE; MEDICAID; MUSCLE CONTRACTURE; MUSCLE FUNCTION; MUSCLE TRAINING; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; MUSCULOSKELETAL FUNCTION; MUSCULOSKELETAL SYSTEM; NUTRITION; OSTEOPENIA; OSTEOPOROSIS; OTOTOXICITY; PATIENT CARE; PHYSICAL EXAMINATION; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; PRENATAL SCREENING; RESPIRATORY FAILURE; RESPIRATORY FUNCTION; REVIEW; SLEEP DISORDERED BREATHING; VIRUS INFECTION; ADOLESCENT; ADULT; ALGORITHM; ARTICLE; BREATHING DISORDER; CHILD; GASTROINTESTINAL DISEASE; HEART DISEASE; INFANT; METHODOLOGY; MIDDLE AGED; MUSCULOSKELETAL DISEASE; NEWBORN; PATHOPHYSIOLOGY; PRESCHOOL CHILD; STANDARD; SURGERY;

ADOLESCENT; ADULT; ALGORITHMS; CHILD; CHILD, PRESCHOOL; GASTROINTESTINAL DISEASES; GENETIC COUNSELING; GLYCOGEN STORAGE DISEASE TYPE II; HEART DISEASES; HUMANS; INFANT; INFANT, NEWBORN; MIDDLE AGED; MUSCULOSKELETAL DISEASES; PATIENT CARE MANAGEMENT; PRENATAL DIAGNOSIS; RESPIRATION DISORDERS; SURGERY;

EID: 33745589302     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gim.0000218152.87434.f3     Document Type: Review

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