Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland

Clinical Genetics

Volumn 68, Issue 1, 2005, Pages 48-54

  Ługowska, Agnieszka ^a   Berger, J ^b   Tylki Szymanska A ^c   Loschl B ^b   Molzer, B ^b   Zobel, M ^b   Czartoryska, B ^a  

^a INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^b UNIVERSITY OF VIENNA   (Austria)

^c CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

Arylsulfatase A; Genotype; Metachromatic leukodystrophy; Mutation analysis; Phenotype correlations

Indexed keywords

ARYLSULFATASE;

ALLELE; ARTICLE; CHOREOATHETOSIS; CLINICAL ARTICLE; CLINICAL FEATURE; DETERIORATION; DYSARTHRIA; DYSPHAGIA; GAIT DISORDER; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; METACHROMATIC LEUKODYSTROPHY; MOTOR DYSFUNCTION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; NYSTAGMUS; POLAND; POPULATION GENETICS; PRIORITY JOURNAL; PSYCHOSIS; TREMOR;

ADOLESCENT; ADULT; AGE OF ONSET; ALLELES; CEREBROSIDE-SULFATASE; GENE FREQUENCY; HETEROZYGOTE; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MUTATION; PHENOTYPE; POLAND;

EID: 20944444372     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00451.x     Document Type: Article

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