Late onset GM2 gangliosidosis mimicking spinal muscular atrophy

Gene

Volumn 527, Issue 2, 2013, Pages 679-682

  Jamrozik, Z ^a   Lugowska A ^b   Golebiowski M ^a   Krolicki L ^a   Maczewska, J ^a   Kuzma Kozakiewicz M ^a  

^a MEDICAL UNIVERSITY OF WARSAW   (Poland)

^b INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

Author keywords

HEXA gene; Late onset GM2 ganglisidosis; Motor neuron disease; Spinal muscular atrophy

Indexed keywords

FLUORODEOXYGLUCOSE; INOSITOL; LYSOSOME ENZYME; N ACETYLASPARTIC ACID;

ADULT; ARTICLE; ATAXIA; CASE REPORT; CAUCASIAN; CEREBELLUM ATROPHY; CLUBFOOT; DYSARTHRIA; DYSTONIA; GENETIC ANALYSIS; GLUCOSE METABOLISM; GM2 GANGLIOSIDOSIS; HUMAN; LABORATORY TEST; LORDOSIS; MALE; MEDICAL EXAMINATION; MEIGE SYNDROME; MOTONEURON; MUSCLE ATROPHY; MUSCLE TONE; MUSCLE WEAKNESS; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OCCIPITAL LOBE; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; SPEECH DISORDER; SPEECH DYSTONIA; SPINAL MUSCULAR ATROPHY; STUTTERING;

(18)F-FDG PET CT; (18)F-FLUORODEOXYGLUCOSE POSITRON EMISSION TOMOGRAPHY; ALS; AMYOTROPHIC LATERAL SCLEROSIS; FDG-PET; FLUORODEOXYGLUCOSE POSITRON EMISSION TOMOGRAPHY; GM2 GANGLIOSIDOSES; GM2 GANGLIOSIDOSIS TYPE 0; GM2 GANGLIOSIDOSIS TYPE B; GM2-0; GM2-B; GM2G; HEX A; HEX B; HEXA GENE; HEXOSAMINIDASE A; HEXOSAMINIDASE B; LATE ONSET GM2 GANGLISIDOSIS; LATE-ONSET OR CHRONIC GM2 GANGLIOSIDOSES; LOGM2; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MAGNETIC RESONANCE SPECTROSCOPY SINGLE VOXEL; MI/CR; MLPA; MND; MOTOR NEURON DISEASE; MRI; MRS; MRS (SVS); MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION; MYO-INOSITOL/CREATINE; NAA/CR; RATIO OF THE N-ACETYLASPARTATE/CREATINE; SMA; SPINAL MUSCULAR ATROPHY; TAY-SACHS DISEASE; TE; TIME ECHO; TIME SPIN ECHO; TSD; TSE;

ADULT; DIAGNOSIS, DIFFERENTIAL; GANGLIOSIDOSES, GM2; HETEROZYGOTE; HEXOSAMINIDASE A; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUSCULAR ATROPHY, SPINAL; MUTATION;

EID: 84881553128     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.06.030     Document Type: Article

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