Adult Sandhoff disease presenting with chronic diarrhoea

Journal of Inherited Metabolic Disease

Volumn 22, Issue 2, 1999, Pages 187-188

  Gomez Brouchet, A ^a,b   Cintas, P ^b   Lagier, E ^b   Voisin, T ^b   Delisle, M B ^b   Fabre, N ^b   Gerand G ^b   Salvayre, R ^a   Levade, T ^a,b  

^a INSERM   (France)

^b CHU RANGUEIL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE;

ADULT; ARTICLE; CASE REPORT; DIARRHEA; ENZYME ACTIVITY; HUMAN; MALE; SANDHOFF DISEASE;

ADULT; CHRONIC DISEASE; DIARRHEA; HUMANS; MALE; MIDDLE AGED; SANDHOFF DISEASE;

EID: 0032947982     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005414423295     Document Type: Article

References (2)

1. Gravel RA, Clarke JTR, Kaback MM, Mahuran D, Sandhoff K, Suzuki K (1995) The GM2 gangliosidoses. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2839-2879.
2. Modigliani R, Lemann M, Mélançon SB, et al (1994) Diarrhoea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease). Gastroenterology 106: 775-781.