Retrospective diagnosis of GM1 gangliosidosis by use of a newborn-screening card [2]

Clinical Chemistry

Volumn 47, Issue 11, 2001, Pages 2068-

  Chamoles, N A ^a   Blanco, M B ^a   Iorcansky, S ^a   Gaggioli, D ^a   Specola N ^a   Casentini, C ^a  

^a Laboratory of Neurochemistry   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GALACTOSIDASE; BETA N ACETYLHEXOSAMINIDASE; CARBOXYPEPTIDASE C; SIALIDASE;

ADULT; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ASSAY; FEMALE; GALACTOSIALIDOSIS; GM1 GANGLIOSIDOSIS; HUMAN; HURLER SYNDROME; LETTER; LYSOSOME STORAGE DISEASE; MALE; NEWBORN; NEWBORN SCREENING; PROTEIN DEGRADATION;

EID: 0034777243     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/47.11.2068     Document Type: Letter

References (4)

1. β-Galactosidase deficiency (β-galactosidosis). GM1 gangliosidosis and Morquio B disease
2. Galactosialidosis
3. Diagnosis of α-L-iduronidase deficiency in dried blood spots on filter paper: The possibility of newborn diagnosis
4. Fabry disease: Enzymatic diagnosis in dried blood spots on filter paper