Mutation Update ofARSAandPSAPGenes Causing Metachromatic Leukodystrophy

Metachromatic leukodystrophy presenting as bipolar disorder

(2014) Dennis Velakoulis et al.   AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY

Newborn Screening for Lysosomal Storage Diseases

(2014) M. H. Gelb et al.   CLINICAL CHEMISTRY

A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy

(2014) Agnieszka Ługowska et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers

(2014) Laura Siri et al.   NEUROGENETICS

Ultra-performance liquid chromatography/tandem mass spectrometry for determination of sulfatides in dried blood spots from patients with metachromatic leukodystrophy

(2014) Minje Han et al.   RAPID COMMUNICATIONS IN MASS SPECTROMETRY

Quantification of sulfatides in dried blood and urine spots from metachromatic leukodystrophy patients by liquid chromatography/electrospray tandem mass spectrometry

(2013) Mariana Barcenas et al.   CLINICA CHIMICA ACTA

Newborn screening for lysosomal storage disorders and other neuronopathic conditions

(2013) Dietrich Matern et al.   Developmental Disabilities Research Reviews

Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy

(2013) Paola Luzi et al.   GENE

Critical issues for the proper diagnosis of Metachromatic Leukodystrophy

(2013) Laura Lorioli et al.   GENE

An Italian Cohort Study Identifies Four New Pathologic Mutations in the ARSA Gene

(2013) Daniela Galla et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

(2013) A. Biffi et al.   SCIENCE

Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy

(2012) Yo Niida et al.   JOURNAL OF HUMAN GENETICS

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: A case report and phenotypic comparison with a previously reported case

(2011) Takehiro Hayashi et al.   PSYCHIATRY AND CLINICAL NEUROSCIENCES

Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele

(2010) Anna Tylki-Szymanska et al.   CLINICAL GENETICS

A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient

(2010) Stefano Regis et al.   CLINICAL GENETICS

Molecular bases of metachromatic leukodystrophy in Polish patients

(2010) Agnieszka Ługowska et al.   JOURNAL OF HUMAN GENETICS

Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population

(2010) Pallavi Shukla et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Identification of a Novel Splicing Mutation in theARSAGene in a Patient with Late-infantile Form of Metachromatic Leukodystrophy

(2010) Dong-Hee Kang et al.   Korean Journal of Laboratory Medicine

Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): Report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations

(2009) Ladislav Kuchař et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation

(2009) A Biffi et al.   CLINICAL GENETICS

Molecular and clinical consequences of novel mutations in the arylsulfatase A gene

(2009) A Ługowska et al.   CLINICAL GENETICS

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

(2009) A-M Bisgaard et al.   CLINICAL GENETICS

Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy

(2009) Martina Cesani et al.   HUMAN MUTATION

Sphingolipid Activator Protein B Deficiency: Report of 9 Saudi Patients and Review of the Literature

(2009) Zuhair N. Al-Hassnan et al.   JOURNAL OF CHILD NEUROLOGY

A Novel Mutation of the Arylsulfatase A Gene in Late-Onset Metachromatic Leukodystrophy

(2009) Anja Schneider et al.   JOURNAL OF CLINICAL PSYCHIATRY

Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD)

(2009) Imen Dorboz et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A case of adult onset metachromatic leukodystrophy

(2009)   PSYCHIATRY AND CLINICAL NEUROSCIENCES

A Novel Mutation in the Arylsulfatase A Gene Associated with Adult-Onset Metachromatic Leukodystrophy without Clinical Evidence of Neuropathy

(2008) Chieko Suzuki et al.   EUROPEAN NEUROLOGY

Molecular analysis ofARSAandPSAPgenes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novelARSAalleles

(2008) Serena Grossi et al.   HUMAN MUTATION

Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy

(2008) Evren Önder et al.   NEUROLOGICAL RESEARCH

Metachromatic leukodystrophy without arylsulfatase A deficiency: A new case of saposin-B deficiency

(2007) Nicolas Deconinck et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY