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2,271 results

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Page 1

Biglari S, Vahidnezhad H, Tabatabaiefar MA, Khorram Khorshid HR, Esmaeilzadeh E. Biglari S, et al. Mol Genet Genomic Med. 2024 Apr;12(4):e2435. doi: 10.1002/mgg3.2435. Mol Genet Genomic Med. 2024. PMID: 38618971 Free PMC article. Review.

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.

Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A. Adang LA, et al. Cytotherapy. 2024 Apr 1:S1465-3249(24)00579-6. doi: 10.1016/j.jcyt.2024.03.487. Online ahead of print. Cytotherapy. 2024. PMID: 38613540

Haploidentical hematopoietic stem cell transplantation with busulfan, cyclophosphamide, and fludarabine conditioning for X-linked adrenal cerebral leukodystrophy.

Chen Y, Xu LP, Zhang XH, Chen H, Liu KY, Qing J, Yang YL, Huang XJ. Chen Y, et al. Pediatr Transplant. 2024 May;28(3):e14735. doi: 10.1111/petr.14735. Pediatr Transplant. 2024. PMID: 38602169

Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series.

Beerepoot S, Boelens JJ, Lindemans C, de Witte MA, Nierkens S, Vrancken AFJE, van der Knaap MS, Bugiani M, Wolf NI. Beerepoot S, et al. J Neurol. 2024 Apr 2. doi: 10.1007/s00415-024-12322-3. Online ahead of print. J Neurol. 2024. PMID: 38564053

Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.

Ruan DD, Ruan XL, Wang RL, Lin XF, Zhang YP, Lin B, Li SJ, Wu M, Chen Q, Zhang JH, Cheng Q, Zhang YW, Lin F, Luo JW, Zheng Z, Li YF. Ruan DD, et al. Sci Rep. 2024 Apr 1;14(1):7638. doi: 10.1038/s41598-024-58452-6. Sci Rep. 2024. PMID: 38561452 Free PMC article.

Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations.

Tricoli L, Sase S, Hacker J, Pham V, Smith S, Chappell M, Breda L, Hurwitz S, Tanaka N, Castracani CC, Guerra A, Hou Z, Schlotawa L, Radhakrishnan K, Kurre P, Ahrens-Nicklas R, Adang L, Vanderver A, Rivella S. Tricoli L, et al. bioRxiv [Preprint]. 2024 Mar 14:2024.03.14.584404. doi: 10.1101/2024.03.14.584404. bioRxiv. 2024. PMID: 38559013 Free PMC article. Preprint.

Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.

Laugwitz L, Schoenmakers DH, Adang LA, Beck-Woedl S, Bergner C, Bernard G, Bley A, Boyer A, Calbi V, Dekker H, Eichler F, Eklund E, Fumagalli F, Gavazzi F, Grønborg SW, van Hasselt P, Langeveld M, Lindemans C, Mochel F, Oberg A, Ram D, Saunier-Vivar E, Schöls L, Scholz M, Sevin C, Zerem A, Wolf NI, Groeschel S. Laugwitz L, et al. Eur J Paediatr Neurol. 2024 Mar 9;49:141-154. doi: 10.1016/j.ejpn.2024.03.003. Online ahead of print. Eur J Paediatr Neurol. 2024. PMID: 38554683

Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.

Bekri S, Bley A, Brown HA, Chanson C, Church HJ, Gelb MH, Hong X, Janzen N, Kasper DC, Mechtler T, Morton G, Murko S, Oliva P, Tebani A, Wu THY. Bekri S, et al. Mol Genet Metab. 2024 Mar 22;142(1):108436. doi: 10.1016/j.ymgme.2024.108436. Online ahead of print. Mol Genet Metab. 2024. PMID: 38552449

POLR3-related leukodystrophy caused by biallelic POLR3A and 1C pathogenic variants: a single-center experience.

Liu J, Niu Y, Qin J, Yang Z. Liu J, et al. Front Neurol. 2024 Mar 14;15:1355484. doi: 10.3389/fneur.2024.1355484. eCollection 2024. Front Neurol. 2024. PMID: 38550343 Free PMC article.

Congenital spongiform leukodystrophy in 2 female littermate German shepherd puppies.

De Miguel R, Hague DW, Johnson JL, Zilinger AM, Kukekova A, Lezmi S. De Miguel R, et al. J Vet Intern Med. 2024 Mar 27. doi: 10.1111/jvim.17055. Online ahead of print. J Vet Intern Med. 2024. PMID: 38544400 Free article.

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