Hexosaminidase a deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosis

Muscle and Nerve

Volumn 28, Issue 1, 2003, Pages 109-112

  Drory, Vivian E ^a,c   Birnbaum, Miriam ^a   Peleg, Leah ^b   Goldman, Boleslaw ^b   Korczyn, Amos D ^c  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

Author keywords

Amyotrophic lateral sclerosis; Gene mutations; GM2 gangliosidosis; Hexosaminidase A; Motor neuron disease

Indexed keywords

ARGININE; BETA N ACETYLHEXOSAMINIDASE; GLUTAMINE; GLYCINE; SERINE; VALINE;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; ENZYME ACTIVITY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC RISK; HETEROZYGOSITY; HUMAN; ISRAEL; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RACE DIFFERENCE; RISK FACTOR; SCREENING TEST; TAY SACHS DISEASE;

AGED; ALLELES; AMYOTROPHIC LATERAL SCLEROSIS; BETA-N-ACETYLHEXOSAMINIDASE; DIAGNOSIS, DIFFERENTIAL; DNA; FEMALE; GENE FREQUENCY; HUMANS; ISRAEL; JEWS; MALE; MIDDLE AGED; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SYNDROME; TAY-SACHS DISEASE;

EID: 0038798577     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.10371     Document Type: Article

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