Roberto CusanoStefano Regis
2002, Human Genetics
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Barry Eng
Human Mutation, 2003
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Journal of Human Genetics, 2019
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European Neurology, 2000
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Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations
Ana Marcao
American Journal of Medical Genetics, 2003
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Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of theARSA gene
Barry Eng
American Journal of Medical Genetics, 2004
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Molecular and clinical consequences of novel mutations in the arylsulfatase A gene
Rafał Płoski
Clinical Genetics, 2009
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Problems in the clinical interpretation of arylsulfatase A deficiency
Gideon Bach
American Journal of Medical Genetics, 1981
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An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient
Mirella Filocamo, Stefano Regis
European Journal of Human Genetics, 2004
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Mutations c.459+1G>A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries
Linda Berna
Molecular Genetics and Metabolism, 2005
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Mutations c.459 + 1G > A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries
Linda Berna
2005
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Arylsulfatase A pseudodeficiency in healthy Brazilian individuals
Roberto Giugliani
Brazilian Journal of Medical and Biological Research, 1999
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Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population
Susana Balcells
Clinical Genetics, 2008
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Arylsulfatase A in pseudodeficiency
Gideon Bach
Human Genetics, 1984
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Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain
MariaLuiza Saraiva-Pereira
Human Genetics, 1993
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Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum
Hala Bassyouni
Journal of Molecular Neuroscience, 2020
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Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene
bilge özgör
Journal of Pediatric Endocrinology and Metabolism, 2018
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Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles
Vincenzo Leuzzi
Human Mutation, 2008
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Molecular analysis of ARSA and PSAP genes in twenty‐one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 …
Camillo Rosano
Human …, 2008
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An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A
Tetsuya Fujii
Human Genetics, 1993
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A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy
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Journal of Inherited Metabolic Disease, 1996
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Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient
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Metachromatic Leukodystrophy Without Arylsulfatase a Deficiency
Michael Kaback
Pediatric Research, 1979
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Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease
Bernhard Schuknecht
American journal of human genetics, 1993
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Population Carrier Rates of Pathogenic ARSA Gene Mutations: Is Metachromatic Leukodystrophy Underdiagnosed?
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PloS one, 2011
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Pseudo Arylsulfatase A Deficiency Biosynthesis of An Abnormal Arylsulfatase A
mohammed ameen
FEBS letters, 1987
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Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy
M. Stroppiano
Journal of Medical Genetics, 1996
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Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population
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Journal of Medical Genetics, 1994
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Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity
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Clinical Neurology and Neurosurgery, 2021
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