Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

Neuromuscular Disorders

Volumn 25, Issue 7, 2015, Pages 548-553

  Gutierrez Rivas E ^a   Bautista, J ^b   Vilchez J J ^c   Muelas, N ^c   Diaz Manera J ^d   Illa, I ^d   Martinez Arroyo A ^e   Olive M ^e   Sanz, I ^f   Arpa, J ^f   Fernandez Torron R ^g   Lopez de Munain A ^g   Jimenez L ^h   Solera, J ^f   Lukacs, Z ⁱ  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b Sagrado Corazón Clinic   (Spain)

^c HOSPITAL UNIVERSITARIO LA FE   (Spain)

^d HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^e HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^f HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^g HOSPITAL DONOSTIA   (Spain)

^h HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

ⁱ UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Creatine kinase; Dried blood spots; Enzyme replacement therapy; GAA deficiency; Glycogen storage disease; Myopathy

Indexed keywords

ALPHA GLUCOSIDASE; CREATINE KINASE;

ABNORMALLY HIGH SUBSTRATE CONCENTRATION IN BLOOD; ADULT; AGED; ARTICLE; ASYMPTOMATIC DISEASE; CLINICAL EFFECTIVENESS; CLINICAL TRIAL; COHORT ANALYSIS; CREATINE KINASE BLOOD LEVEL; DELAYED DIAGNOSIS; DIAGNOSTIC ERROR; DRIED BLOOD SPOT TESTING; ELECTROMYOGRAPHY; ENZYME ACTIVITY; EXERCISE TOLERANCE; FEMALE; FLUOROMETRY; GENE MUTATION; GENETIC SCREENING; GLYCOGEN STORAGE DISEASE TYPE 2; HETEROZYGOTE; HUMAN; HYPERCKEMIA; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MULTICENTER STUDY; MUSCLE BIOPSY; MYALGIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROSPECTIVE STUDY; RESPIRATORY FUNCTION; YOUNG ADULT; ADOLESCENT; BLOOD; COMPLICATION; ENZYMOLOGY; GENETICS; GLYCOGEN STORAGE DISEASE TYPE II; METABOLIC DISORDER; MUTATION; VERY ELDERLY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALPHA-GLUCOSIDASES; CREATINE KINASE; DELAYED DIAGNOSIS; DRIED BLOOD SPOT TESTING; FEMALE; GENETIC TESTING; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MALE; METABOLIC DISEASES; MIDDLE AGED; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84930536206     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2015.04.008     Document Type: Article

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