Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 18 (of 18 Records) |
Query Trace: Metachromatic Leukodystrophy[original query] |
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Croatian population data for arylsulfatase a pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome. Archives of medical research 0 33 (5): 473-7. Bognar Svjetlana Kalanj, Furac Ivana, Kubat Milovan, Cosovi? Cedomir, Demarin Vi |
Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries. Molecular genetics and metabolism 2005 Nov 86 (3): 353-9. Lugowska Agnieszka, Amaral Olga, Berger Johannes, Berna Linda, Bosshard Nils U, Chabas Amparo, Fensom Anthony, Gieselmann Volkmar, Gorovenko Natalia G, Lissens Willy, Mansson Jan-Eric, Marcao Ana, Michelakakis Helen, Bernheimer Hanno, Ol'khovych Natalia V, Regis Stefano, Sinke Richard, Tylki-Szymanska Anna, Czartoryska Barba |
Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed? PloS one 2011 6 (6): 6. Lugowska A, Poni?ska J, Krajewski P, Broda G, P?oski R |
Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy. Gene 2013 Sep 526 (2): 176-81. ?ugowska Agnieszka, Musielak Ma?gorzata, Jamroz Ewa, Pyrkosz Antoni, Kmie? Tomasz, Tylki-Szyma?ska Anna, Bednarska-Makaruk Ma?gorza |
Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy. Annals of laboratory medicine 2015 Jul 35 (4): 458-62. Han Minje, Jun Sun-Hee, Lee Yun-Jin, Eun Baik-Lin, Lee Seung Jun, Seong Moon-Woo, Park Sung Sup, Song Sang Hoon, Park Hyung-Doo, Song Jungh |
Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy. Gene 2015 Aug 568 (1): 69-75. Virgens M Y F, Siebert M, Bock H, Burin M, Giugliani R, Saraiva-Pereira M |
Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD). BMC research notes 2019 11 12 (1): 726. Hettiarachchi D, Dissanayake V H |
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy. Journal of human genetics 2019 1 64 (4): 323-331. Narayanan Dhanya Lakshmi, Matta Divya, Gupta Neerja, Kabra Madhulika, Ranganath Prajnya, Aggarwal Shagun, Phadke Shubha R, Datar Chaitanya, Gowrishankar Kalpana, Kamate Mahesh, Jain Jamal Mohammed Nurul, Dalal Ashw |
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. Journal of inherited metabolic disease 2020 8 43 (6): 1298-1309. Adang Laura A, Schlotawa Lars, Groeschel Samuel, Kehrer Christiane, Harzer Klaus, Staretz-Chacham Orna, Silva Thiago Oliveira, Schwartz Ida Vanessa D, Gärtner Jutta, De Castro Mauricio, Costin Carrie, Montgomery Esperanza Font, Dierks Thomas, Radhakrishnan Karthikeyan, Ahrens-Nicklas Rebecca |
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients. Neurogenetics 2020 7 21 (4): 289-299. Beerepoot Shanice, van Dooren Silvy J M, Salomons Gajja S, Boelens Jaap Jan, Jacobs Edwin H, van der Knaap Marjo S, van Kuilenburg André B P, Wolf Nicole |
Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis. Molecular genetics & genomic medicine 2020 5 8 (8): e1305. Juárez-Osuna Jesús A, Mendoza-Ruvalcaba Sandra C, Porras-Dorantes Angela, Da Silva-José Thiago D, García-Ortiz José |
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives. Molecular genetics and metabolism reports 2020 12 25 100688. Pekgül Faruk, Ero?lu-Ertu?rul Nesibe Gevher, Bekircan-Kurt Can Ebru, Erdem-Ozdamar Sevim, Çetinkaya Arda, Tan Ersin, Konu?kan Bahad?r, Karaa?ao?lu Ergun, Topçu Meral, Akarsu Nurten Ay?e, Oguz Kader K, Anlar Banu, Özkara Hatice Asum |
Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum. Journal of molecular neuroscience : MN 2020 11 71 (5): 1112-1130. Amr Khalda, Fateen Ekram, Mansour Lobna, Tosson Angie Ms, Zaki Maha S, Salam Ghada Mh Abdel, Mohamed Ahmed Nabil, El-Bassyouni Hala |
Association of Age at Onset and First Symptoms With Disease Progression in Patients With Metachromatic Leukodystrophy. Neurology 2020 10 96 (2): e255-e266. Kehrer Christiane, Elgün Saskia, Raabe Christa, Böhringer Judith, Beck-Wödl Stefanie, Bevot Andrea, Kaiser Nadja, Schöls Ludger, Krägeloh-Mann Ingeborg, Groeschel Samu |
Evaluating the role of ARSA in Chinese patients with Parkinson's disease. Neurobiology of aging 2021 Aug . Pan Hong-Xu, Wang Yi-Ge, Zhao Yu-Wen, Zeng Qian, Wang Zheng, Fang Zheng-Huan, Zhang Yi, Zhou Xun, He Run-Cheng, Xu Qian, Sun Qi-Ying, Tan Jie-Qiong, Yan Xin-Xiang, Li Jin-Chen, Tang Bei-Sha, Guo Ji-Fe |
Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants. Scientific reports 2021 2 11 (1): 3231. Mahdieh Nejat, Soveizi Mahdieh, Tavasoli Ali Reza, Rabbani Ali, Ashrafi Mahmoud Reza, Kohlschütter Alfried, Rabbani Bahar |
Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity. Clinical neurology and neurosurgery 2020 Dec 201 106448. Mahdieh Nejat, Sharifi Ameneh, Rabbani Ali, Ashrafi Mahmoudreza, Tavasoli Ali Reza, Badv Reza Shervin, Bonkowsky Joshua L, Rabbani Bahar |
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature. JIMD reports 2022 7 63 (4): 292-302. Laugwitz Lucia, Santhanakumaran Vidiyaah, Spieker Mareike, Boehringer Judith, Bender Benjamin, Gieselmann Volkmar, Beck-Woedl Stefanie, Bruchelt Gernot, Harzer Klaus, Kraegeloh-Mann Ingeborg, Groeschel Samu |
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