[1] |
Adang A, Lucchini G, Rovelli A, et al. Metachromatic leukodystrophy: an overview of current and prospective treatments[J]. Bone Marrow Transplant, 2008, 42(Suppl 2): S2-S6.
|
[2] |
Soong BW, Casamassima AC, Fink JK, et al. Multiple sulfatase deficiency[J]. Neurology, 1988, 38(8): 1273-1275.
pmid: 2899861
|
[3] |
van Rappard DF, Bugiani M, Boelens JJ, et al. Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy[J]. Neurology, 2016, 87(1): 103-111.
doi: 10.1212/WNL.0000000000002811
pmid: 27261095
|
[4] |
Lorioli L, Cicalese MP, Silvani P, et al. Abnormalities of acid-base balance and predisposition to metabolic acidosis in Metachromatic Leukodystrophy patients[J]. Mol Genet Metab, 2015, 115(1): 48-52.
doi: 10.1016/j.ymgme.2015.02.009
pmid: 25796965
|
[5] |
Beerepoot S, Nierkens S, Boelens JJ, et al. Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective[J]. Orphanet J Rare Dis, 2019, 14(1): 240.
doi: 10.1186/s13023-019-1220-4
pmid: 31684987
|
[6] |
van Rappard DF, Boelens JJ, Wolf NI. Metachromatic leukodystrophy: disease spectrum and approaches for treatment[J]. Best Pract Res Clin Endocrinol Metab, 2015, 29(2): 261-273.
doi: 10.1016/j.beem.2014.10.001
pmid: 25987178
|
[7] |
李懋, 解媛媛, 杨飞, 等. 中国异染性脑白质营养不良携带者筛查临床实践指南[J]. 国际神经病学神经外科学杂志, 2024, 51(2): 13-17.
|
|
Li M, Xie YY, Yang F, et al. Clinical Practice Guidelines for Carrier Screening of Metachromatic Leukodystrophy in China[J]. Guoji Shenjingbingxue Shenjingwaikexue Zazhi, 2024, 51(2): 13-17.
|
[8] |
Köhler W. Leukodystrophies with late disease onset: an update[J]. Curr Opin Neurol, 2010, 23(3): 234-241.
doi: 10.1097/WCO.0b013e328338313a
pmid: 20216214
|
[9] |
Shaimardanova AA, Chulpanova DS, Solovyeva VV, et al. Metachromatic leukodystrophy: diagnosis, modeling, and treatment approaches[J]. Front Med (Lausanne), 2020, 7: 576221.
|
[10] |
Cesani M, Lorioli L, Grossi S, et al. Mutation update of ARSA and PSAP genes causing metachromatic leuko-dystrophy[J]. Hum Mutat, 2016, 37(1): 16-27.
|
[11] |
Patil SA, Maegawa GH. Developing therapeutic approaches for metachromatic leukodystrophy[J]. Drug Des Devel Ther, 2013, 7: 729-745.
|
[12] |
Groeschel S, Kühl J, Bley AE, et al. Long-term outcome of allogeneic hematopoietic stem cell transplantation in patients with juvenile metachromatic leukodystrophy compared with nontransplanted control patients[J]. JAMA Neurol, 2016, 73(9): 1133-1140.
doi: 10.1001/jamaneurol.2016.2067
pmid: 27400410
|
[13] |
Adang L, Bonkowsky J, Boelens J, et al. Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States[J]. Cytotherapy, 2024, 26(7): 739-748.
doi: 10.1016/j.jcyt.2024.03.487
pmid: 38613540
|
[14] |
Fumagalli F, Calbi V, Natali Sora MG, et al. Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access[J]. Lancet, 2022, 399(10322): 372-383.
doi: 10.1016/S0140-6736(21)02017-1
pmid: 35065785
|
[15] |
I Dali C, Sevin C, Krageloh-Mann I, et al. Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial[J]. Mol Genet Metab, 2020, 131(1-2): 235-244.
doi: 10.1016/j.ymgme.2020.07.002
pmid: 32792226
|
[16] |
Chen L, Yan H, Cao B, et al. Identification of novel ARSA mutations in Chinese patients with metachromatic leukodystrophy[J]. Int J Genomics, 2018: 2361068.
|
[17] |
Li T, Huang Y, Tao C, et al. Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants[J]. Metab Brain Dis, 2024, 39(5): 753-762.
doi: 10.1007/s11011-024-01348-1
pmid: 38775997
|
[18] |
Strobel S, Hesse N, Santhanakumaran V, et al. Optimization of enzyme essays to enhance reliability of activity measurements in leukocyte lysates for the diagnosis of metachromatic leukodystrophy and gangliosidoses[J]. Cells, 2020, 9(12): 2553.
|
[19] |
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5): 405-424.
doi: 10.1038/gim.2015.30
pmid: 25741868
|
[20] |
Riggs ER, Andersen EF, Cherry AM, et al. Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)[J]. Genet Med, 2020, 22(2): 245-257.
|
[21] |
Kafert S, Heinisch U, Zlotogora J, et al. A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme[J]. Hum Genet, 1995, 95(2): 201-204.
pmid: 7860068
|
[22] |
Niida Y, Kuroda M, Mitani Y, et al. Paternal uniparental isodisomy of chromosome 22 in a patient with meta-chromatic leukodystrophy[J]. J Hum Genet, 2012, 57(10): 687-690.
doi: 10.1038/jhg.2012.97
pmid: 22854541
|
[23] |
Gort L, Coll MJ, Chabás A. Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients[J]. Hum Mutat, 1999, 14(3): 240-248.
pmid: 10477432
|
[24] |
Trinidad M, Hong X, Froelich S, et al. Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix[J]. Genome Biol, 2023, 21, 24(1): 172.
|
[25] |
Gieselmann V, von Figura K. Advances in the molecular genetics of metachromatic leukodystrophy[J]. J Inherit Metab Dis, 1990, 13(4): 560-571.
pmid: 1977956
|
[26] |
Fumagalli F, Zambon AA, Rancoita PMV, et al. Metachromatic leukodystrophy: A single-center longi-tudinal study of 45 patients[J]. J Inherit Metab Dis, 2021, 44(5): 1151-1164.
|
[27] |
Beerepoot S, Salomons GS, et al. Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients[J]. Neurogenetics, 2020, 21(4): 289-299.
doi: 10.1007/s10048-020-00621-6
pmid: 32632536
|
[28] |
von Bülow R, Schmidt B, Dierks T, et al. Crystal structure of an enzyme-substrate complex provides insight into the interaction between human arylsulfatase A and its substrates during catalysis[J]. J Mol Biol, 2001, 305(2): 269-277.
doi: 10.1006/jmbi.2000.4297
pmid: 11124905
|