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Abbreviation : PD
Long Form : pseudodeficiency
No. Year Title Co-occurring Abbreviation
2015 Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy. ARSA, DBSs, MLD
2014 Ultra-performance liquid chromatography/tandem mass spectrometry for determination of sulfatides in dried blood spots from patients with metachromatic leukodystrophy. DBSs, MLD
2013 Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. ARSA, MLD
2004 An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient. ARSA
2003 Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy. ASA, MLD
2003 Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD). ARSA, MLD
2002 Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy. ARSA, MLD, MOBD, NCV
2000 Arylsulfatase A pseudodeficiency incidence in Turkey. ASA, MLD
2000 Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland. ASA, MLD
10  1998 Practical suggestions in diagnosing metachromatic leukodystrophy in probands and in testing family members. ASA, MLD
11  1997 Arylsulfatase A pseudodeficiency: altered kinetic and heat-inactivation properties. ASA, pNCS
12  1996 Arylsulfatase A pseudodeficiency--incidence in Poland. ASA, MLD
13  1995 Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews. ARSA, MLD, P377L
14  1994 Arylsulfatase A pseudodeficiency: a common polymorphism which is associated with a unique haplotype. ARSA
15  1994 Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene. ARSA, ASO, LIMLD, MLD
16  1993 Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease. ASA, MLD
17  1993 Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population. ASA, MLD
18  1991 An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy. ASA, MLD
19  1988 Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology. ASA, MLD
20  1987 Pseudodeficiency of arylsulfatase A: a counseling dilemma. ASA, CV, MLD