Misdiagnosis of Niemann-Pick disease type C as Gaucher disease

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Lo, Sarah M ^a   McNamara, Joseph ^a   Seashore, Margherita R ^a   Mistry, Pramod K ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

1 DEOXYNOJIRIMYCIN; ACID PHOSPHATASE; BETA N ACETYLHEXOSAMINIDASE; BIOLOGICAL MARKER; CARRIER PROTEIN; CERAMIDE GLUCOSYLTRANSFERASE; CHITOTRIOSIDASE; CHOLESTEROL ESTER; ENZYME INHIBITOR; GLUCOSYLCERAMIDASE; GLUCOSYLTRANSFERASE; ISOENZYME; MEMBRANE PROTEIN; MIGLUSTAT; NPC1 PROTEIN, HUMAN; TARTRATE-RESISTANT ACID PHOSPHATASE; ACID PHOSPHATASE TARTRATE RESISTANT ISOENZYME; DRUG DERIVATIVE;

ANALOGS AND DERIVATIVES; ANTAGONISTS AND INHIBITORS; BLOOD; CASE REPORT; CELL CULTURE; COMPLICATION; DIAGNOSTIC ERROR; ENZYME REPLACEMENT; ENZYMOLOGY; ESTERIFICATION; FEMALE; GAUCHER DISEASE; GENETIC PREDISPOSITION; GENETICS; HEPATOMEGALY; HETEROZYGOTE; HUMAN; INFANT; METABOLISM; MUTATION; NIEMANN-PICK DISEASE, TYPE C; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREDICTIVE VALUE; SPLENOMEGALY; UNNECESSARY PROCEDURE; ARTICLE; DRUG ANTAGONISM; NIEMANN PICK DISEASE;

1-DEOXYNOJIRIMYCIN; ACID PHOSPHATASE; BIOLOGICAL MARKERS; CARRIER PROTEINS; CELLS, CULTURED; CHOLESTEROL ESTERS; DIAGNOSTIC ERRORS; DNA MUTATIONAL ANALYSIS; ENZYME INHIBITORS; ENZYME REPLACEMENT THERAPY; ESTERIFICATION; FEMALE; GAUCHER DISEASE; GENETIC PREDISPOSITION TO DISEASE; GLUCOSYLCERAMIDASE; GLUCOSYLTRANSFERASES; HEPATOMEGALY; HETEROZYGOTE; HEXOSAMINIDASES; HUMANS; INFANT; ISOENZYMES; MEMBRANE GLYCOPROTEINS; MUTATION; NIEMANN-PICK DISEASE, TYPE C; PHENOTYPE; PREDICTIVE VALUE OF TESTS; SPLENOMEGALY; UNNECESSARY PROCEDURES;

EID: 84897926279     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9214-3     Document Type: Article

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