Human α-N-acetylgalactosaminidase (α-NAGA) deficiency: No association with neuroaxonal dystrophy?

European Journal of Human Genetics

Volumn 9, Issue 2, 2001, Pages 91-96

  Bakker, Henk D ^a   De Sonnaville, Marie Louise C S ^b   Vreken, Peter ^a   Abeling, Nico G G M ^a   Groener, Johanna E M ^c   Keulemans, Joke L M ^d   Van Diggelen, Otto P ^d  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ONZE LIEVE VROUWE GASTHUIS   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

Neuroaxonal dystrophy; Schindler disease; N acetylgalactosaminidase; NAGA deficiency

Indexed keywords

ALPHA N ACETYLGALACTOSAMINIDASE;

ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CELL TYPE; CELL VACUOLE; CHILD; CLINICAL OBSERVATION; CONGENITAL CATARACT; CONTROLLED STUDY; CORRELATION FUNCTION; DEMYELINATING DISEASE; DISEASE ASSOCIATION; DISEASE SEVERITY; ENZYME DEFICIENCY; EPILEPSY; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE; HEMANGIOKERATOMA; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MOTOR RETARDATION; NEUROAXONAL DYSTROPHY; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PERSISTENT VEGETATIVE STATE; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SIBLING; SPECTRUM OF CONGENITAL DEFECTS; SYMPTOM;

RAPHIA FRATER;

EID: 0035137549     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200598     Document Type: Article

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