The Effects of N-Acetyl-L-Leucine on the Improvement of Symptoms in a Patient with Multiple Sulfatase Deficiency-Reference-Cited by-同舟云学术

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The Effects of N-Acetyl-L-Leucine on the Improvement of Symptoms in a Patient with Multiple Sulfatase Deficiency

Published:2022-12-09 Issue: Volume: Page:
ISSN:1473-4230
Container-title:The Cerebellum
language:en
Short-container-title:Cerebellum

Author:

Saberi-Karimian Maryam,Houra Mahsa,Jamialahmadi Tannaz,Sarvghadi Pooria,Nikbaf Mahlagha,Akhlaghi Saeed,Sahebkar Amirhosein

Funder

Mashhad University of Medical Sciences

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

https://link.springer.com/content/pdf/10.1007/s12311-022-01504-2.pdf

Reference21 articles.

1. Schlotawa L, Adang LA, Radhakrishnan K, et al. Multiple sulfatase deficiency: a disease comprising mucopolysaccharidosis, sphingolipidosis, and more caused by a defect in posttranslational modification. Int J Mol Sci. 2020;21(10):3448.

2. Thomas D, Lars S, Andre FM, et al. Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease-Lysosomal storage disorders caused by defects of non-lysosomal proteins. Biochim Biophys Acta Mol Cell Res. 2009;1793(4):710–25.

3. Hopwood JJ, Ballabio A. in The metabolic and molecular basis of the inherited disease (McGraw–Hill, New York), 1997 pp 3725–3732.

4. Sardiello M, Annunziata I, Roma G, Ballabio A. Hum Mol Gen. 2005;14:3203–17.

5. Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A. The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell. 2003;113:445–56.

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1. Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: A randomized, double-blind, placebo-controlled, crossover clinical trial;European Journal of Paediatric Neurology;2024-05

2. N-acetyl-L-leucine protects MPTP-treated Parkinson’s disease mouse models by suppressing Desulfobacterota via the gut-brain axis;Brain Research Bulletin;2023-10

3. Multiple Sulfatase Deficiency (MSD);Genetic Syndromes;2023

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