Identification of sandhoff disease in a Thai family: Clinical and biochemical characterization

Journal of the Medical Association of Thailand

Volumn 93, Issue 9, 2010, Pages 1088-1092

  Sakpichaisakul, Kullasate ^a   Taeranawich, Pairat ^a   Nitiapinyasakul, Achara ^a   Sirisopikun, Todsaporn ^a  

^a MAHARAT NAKHON RATCHASIMA HOSPITAL   (Thailand)

Author keywords

Cherry red spot; Infantile sandhoff disease; Mitral valve prolapse

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A; BETA N ACETYLHEXOSAMINIDASE B; BETA N ACETYLHEXOSAMINIDASE;

ARTICLE; CASE REPORT; CHERRY RED SPOT; CHILD; CLINICAL FEATURE; CLONIC SEIZURE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DISEASE CARRIER; ENZYME ASSAY; EYE EXAMINATION; FAMILY ASSESSMENT; HUMAN; MALE; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; MYOCLONUS SEIZURE; NEUROLOGIC EXAMINATION; PRESCHOOL CHILD; RARE DISEASE; REMISSION; RESPIRATORY TRACT DISEASE; SANDHOFF DISEASE; STARTLE REFLEX; TAY SACHS DISEASE; THAILAND; BLOOD; COMPLICATION; FATALITY; GENETICS; HEART VALVE DISEASES; INFANT; PEDIGREE; SEIZURES; TAY-SACHS DISEASE; VISION DISORDERS;

DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; HEART VALVE DISEASES; HEXOSAMINIDASES; HUMANS; INFANT; MALE; PEDIGREE; SANDHOFF DISEASE; SEIZURES; TAY-SACHS DISEASE; VISION DISORDERS;

EID: 77958027178     PISSN: 01252208     EISSN: 01252208     Source Type: Journal    
DOI: None     Document Type: Article

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