The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease

Journal of Medical Genetics

Volumn 33, Issue 2, 1996, Pages 132-136

  Sidransky, Ellen ^a   Tayebi, Nahid ^a   Stubblefield, Barbara K ^a   Eliason, William ^a   Klineburgess, Angelina ^a   Pizzolato, Gian Paolo ^b   Cox, Jeremiah N ^b   Porta, Josiane ^b   Bottani, Armand ^b   DeLozier Blanchet, Celia D ^b  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

Gaucher disease; Glucocerebrosidase; Hydrops fetalis

Indexed keywords

GLUCOSYLCERAMIDASE;

ALLELE; ARTICLE; CASE REPORT; DISEASE COURSE; ENZYME ACTIVITY; FETUS; FETUS HYDROPS; GAUCHER DISEASE; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; MALE; NEWBORN; NEWBORN DEATH; NEWBORN PERIOD; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 19144365760     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.2.132     Document Type: Article

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