Diagnosis of lysosomal storage diseases;Diagnostiek van lysosomale stapelingsziekten

Nederlands Tijdschrift voor de Klinische Chemie

Volumn 25, Issue 1, 2000, Pages 13-27

  De Jong, J G N ^a   Wevers, R ^a   Van den Berg, C J M ^a   Liebrand van Sambeek, M L F ^a   Van Rens, A A E T ^a   Roelofs, H G M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Glycosaminoglycan; Lysosomal disease; Lysosomal enzymes; Mucopolysaccharidosis; Neuronal ceroid lipofuscinosis; Oligosaccharide; Oligosaccharidosis; Screening; Sphingolipid; Sphingolipidosis; Urine

Indexed keywords

GLYCOSAMINOGLYCAN; LIPOFUSCIN; NEURAMINIC ACID; OLIGOSACCHARIDE;

ENZYME DEFICIENCY; ENZYME DEGRADATION; HUMAN; LIPIDOSIS; LYSOSOME STORAGE DISEASE; MUCOLIPIDOSIS TYPE 2; MUCOLIPIDOSIS TYPE 3; NEURONAL CEROID LIPOFUSCINOSIS; REVIEW;

EID: 0033983520     PISSN: 13803689     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (39)