Late infantile and juvenile form of GM2-gangliosidosis variant B1;Fenotipo infantil tardio y juvenil de la variante B1 de gangliosidosis GM2

Revista de Neurologia

Volumn 29, Issue 5, 1999, Pages 435-438

  Eiris J ^a   Chabas A ^b   Coll, M J ^b   Castro Gago, M ^a,c  

^a HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^b Institut de Bioquimica Clinica Barcelona   (Spain)

^c HOSPITAL GENERAL DE GALICIA   (Spain)

Author keywords

B1 variant; Compound heterozygote; Degenerative diseases; GM2 gangliosidosis; Hexosaminidase A

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A;

ARTICLE; CASE REPORT; CHERRY RED SPOT; DEMENTIA; DYSTONIA; EPILEPSY; FEMALE; GM2 GANGLIOSIDOSIS; HETEROZYGOTE; HUMAN; MOTOR DYSFUNCTION; PRESCHOOL CHILD; QUADRIPLEGIA; AGE; ALLELE; GENE EXPRESSION; GENETICS; PHENOTYPE; POINT MUTATION; SANDHOFF DISEASE;

AGE FACTORS; ALLELES; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION; HETEROZYGOTE; HUMANS; PHENOTYPE; POINT MUTATION; SANDHOFF DISEASE;

EID: 0033181212     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.2905.99302     Document Type: Article

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