Muscle MRI findings in siblings with juvenile-onset acid maltase deficiency (Pompe disease)

Neuromuscular Disorders

Volumn 18, Issue 5, 2008, Pages 408-409

  Dlamini, Nomazulu ^a   Jan, Wajanat ^a   Norwood, Fiona ^b   Sheehan, Jennie ^a   Spahr, Rachael ^a   Al Sarraj, Safa ^b   Anthony Hulse, J ^a   Hughes, Derralynn ^c   Champion, Michael P ^a   Jungbluth, Heinz ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b KING S COLLEGE HOSPITAL   (United Kingdom)

^c ROYAL FREE HOSPITAL   (United Kingdom)

Author keywords

Lysosomal storage disorders; Muscle CT; Muscle MRI; Pompe disease

Indexed keywords

GLYCOGEN;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL ASSESSMENT; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MOLECULAR GENETICS; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SIBLING; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MAGNETIC RESONANCE IMAGING; MUSCLE WEAKNESS; MUSCLE, SKELETAL; SIBLINGS; THIGH;

EID: 43449134665     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.02.006     Document Type: Article

References (3)

1. Pichiecchio A., Uggetti C., Ravaglia S., et al. Muscle MRI in adult-onset acid maltase deficiency. Neuromuscul Disord 14 (2004) 51-55
2. De Jager A.E.J., van der Vliet T.M., van der Ree T.C., et al. Muscle Computed Tomography in adult-onset acid maltase deficiency. Muscle Nerve 21 (1998) 398-409
3. Arai Y., Osawa M., Shshikura H., et al. Computed tomography and magnetic resonance imaging of affected muscle in childhood acid alpha-glucosidase deficiency: a case report. Brain Dev 15 (1993) 147-152