Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseases

American Journal of Medical Genetics

Volumn 63, Issue 1, 1996, Pages 198-202

  Kopitz, Jürgen ^a   Harzer, Klaus ^b   Kohlschütter, Alfried ^c   Zöller, Barbara ^a   Blenck, Nahid ^a   Cantz, Michael ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

diagnosis; glycogenosis II; lysosomal disease; mucolipidosis; mucopolysaccharidosis; neuronal ceroid lipofuscinosis; Niemann Pick type C; oligosaccharidosis

Indexed keywords

LEUPEPTIN; METHYLAMINE;

AMNION CELL; ARTICLE; CHORION VILLUS; CONTROLLED STUDY; DIAGNOSTIC VALUE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN CELL; LIPIDOSIS; LYSOSOME STORAGE DISEASE; MUCOPOLYSACCHARIDOSIS; NEURONAL CEROID LIPOFUSCINOSIS; NIEMANN PICK DISEASE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

AMNION; BIOLOGICAL TRANSPORT; CARBON RADIOISOTOPES; CELLS, CULTURED; CHILD; CHORIONIC VILLI; FEMALE; FIBROBLASTS; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; LYSOSOMAL STORAGE DISEASES; METHYLAMINES; NEURONAL CEROID-LIPOFUSCINOSES; NIEMANN-PICK DISEASES; PREGNANCY; REFERENCE VALUES; SKIN; SPHINGOLIPIDOSES;

EID: 0029868973     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<198::AID-AJMG35>3.0.CO;2-H     Document Type: Article

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