Arylsulfatase A pseudodeficiency in healthy Brazilian individuals

Arylsulfatase A pseudodeficiency in healthy Brazilian individuals

Molecular alterations associated with arylsulfatase A pseudodeficiency (ASA-PD) were characterized by PCR and restriction endonuclease analysis in a sample of healthy individuals from Brazil. ASA activity was also assayed in all subjects. Two individuals homozygous for the N350S and 1524+95A<FONT...

Full description

Bibliographic Details
Main Authors:	C.G. Pedron, P.A. Gaspar, R. Giugliani, M.L.S. Pereira
Format:	Article
Language:	English
Published:	Associação Brasileira de Divulgação Científica 1999-08-01
Series:	Brazilian Journal of Medical and Biological Research
Subjects:	arylsulfatase A pseudodeficiency metachromatic leukodystrophy
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1999000800002

Similar Items

Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis
by: Jesús A. Juárez‐Osuna, et al.
Published: (2020-08-01)

Metachromatic leukodystrophy: A case report
by: Gopen Kumar Kundu, et al.
Published: (2016-07-01)

A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity
by: Osvaldo Artigalás, et al.
Published: (2012-01-01)

Brain MRI and biological diagnosis in five Tunisians MLD patients
by: Barboura Ilhem, et al.
Published: (2012-01-01)

Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder
by: Neda Golchin, et al.
Published: (2017-11-01)

Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature
by: Lucia Laugwitz, et al.
Published: (2022-07-01)

Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy
by: Francyne Kubaski, et al.
Published: (2022-03-01)

Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)
by: D. Hettiarachchi, et al.
Published: (2019-11-01)

Infantile Metachromatic Leukodystrophy: Case Report
by: Salsabeel Hamad, et al.
Published: (2023-11-01)

Adult-Onset Metachromatic Leukodystrophy: Two Cases
by: Gaye Eryaşar, et al.
Published: (2011-12-01)

Adult-Onset Metachromatic Leukodystrophy: Two Cases
by: Gaye Eryaşar, et al.
Published: (2011-12-01)

Adult metachromatic leukodystrophy: case report
by: T. I. Prusova, et al.
Published: (2021-04-01)

Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR‐based urinary metabolomics
by: Lucia Laugwitz, et al.
Published: (2022-03-01)

A systematic review on the birth prevalence of metachromatic leukodystrophy
by: Shun-Chiao Chang, et al.
Published: (2024-02-01)

Leukodystrophies /
by: Raymond, Gerald V., et al.
Published: (2011)

Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis
by: Lulu Xu, et al.
Published: (2021-01-01)

Case report: A compound heterozygous mutations in ARSA associated with adult-onset metachromatic leukodystrophy
by: Bing-lei Wang, et al.
Published: (2022-10-01)

Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine
by: N. V. Olkhovych, et al.
Published: (2016-10-01)

Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography-tandem mass spectrometry[S]
by: Mina Mirzaian, et al.
Published: (2015-04-01)

Safety and Efficacy of Intravenous and Intrathecal Delivery of AAV9-Mediated ARSA in Minipigs
by: Aysilu Mullagulova, et al.
Published: (2023-05-01)

Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort
by: Stefanie Beck‐Wödl, et al.
Published: (2021-03-01)

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data
by: Majid Alfadhel, et al.
Published: (2021-05-01)

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles
by: Hao Yang, et al.
Published: (2018-03-01)

Metachromatic leukodystrophy
by: Prima Cheryl D′souza, et al.
Published: (2013-01-01)

Dose-response evaluation of intravenous gene therapy in a symptomatic mouse model of metachromatic leukodystrophy
by: Emilie Audouard, et al.
Published: (2024-06-01)

Use of a neuron-glia genome-scale metabolic reconstruction to model the metabolic consequences of the Arylsulphatase a deficiency through a systems biology approach
by: Olga Y. Echeverri-Peña, et al.
Published: (2021-07-01)

Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses
by: Sebastian Strobel, et al.
Published: (2020-11-01)

A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD: What we have accomplished and what opportunities lie ahead
by: Claire Horgan, et al.
Published: (2023-09-01)

The Differential Diagnosis of “Tigroid Pattern” on Brain Magnetic Resonance Imaging: A Case Report
by: Nihan Hande Akcakaya
Published: (2019-06-01)

Lipidomic analysis identifies age-disease-related changes and potential new biomarkers in brain-derived extracellular vesicles from metachromatic leukodystrophy mice
by: Melissa R. Pergande, et al.
Published: (2022-03-01)

Phenotypic variation between siblings with Metachromatic Leukodystrophy
by: Saskia Elgün, et al.
Published: (2019-06-01)

Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective
by: Shanice Beerepoot, et al.
Published: (2019-11-01)

Arylsulfatase A (ASA) in Parkinson’s Disease: From Pathogenesis to Biomarker Potential
by: Efthalia Angelopoulou, et al.
Published: (2020-10-01)

An interesting case of Leigh-like syndrome
by: K Bharani, et al.
Published: (2012-01-01)

A Possible Role for Arylsulfatase G in Dermatan Sulfate Metabolism
by: Aleksandra Poterala-Hejmo, et al.
Published: (2020-07-01)

Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
by: Dehghan Manshadi M, et al.
Published: (2017-06-01)

Characterization and Structural Insights of a Novel Arylsulfatase from <i>Pseudoalteromonas atlantica</i> T6c
by: Panpan Dong, et al.
Published: (2023-04-01)

An in silico approach to identify early damage biomarker candidates in metachromatic leukodystrophy
by: Jessica Gómez, et al.
Published: (2023-06-01)

A case of adult-onset metachromatic leukodystrophy beginning with behavioral symtoms
by: Hazan Tunalı, et al.
Published: (2023-03-01)

Insight into adult-onset metachromatic leukodystrophy with optic atrophy: A comprehensive case report
by: Shailendra Katwal, MD, et al.
Published: (2023-11-01)