scholarly journals Late Infantile Type of Metachromatic Leukodystrophy Caused by Novel Combination of Heterozygous Arsa Mutations

2018 ◽  
Vol 14 (1) ◽  
pp. 131-131
Author(s):  
I Kavecan
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Infantile Type

A new score for assessing white matter changes in metachromatic leukodystrophy

2008 ◽  
Vol 39 (05) ◽  
Author(s):  
M Wilke ◽  
W Grodd ◽  
C Kehrer ◽  
I Krägeloh-Mann
Keyword(s):  
White Matter ◽  
Metachromatic Leukodystrophy ◽  
White Matter Changes

Metachromatic Leukodystrophy: spatial and temporal pattern of MRI changes and their association with motor deterioration

2010 ◽  
Vol 41 (02) ◽  
Author(s):  
S Gröschel ◽  
C Kehrer ◽  
C i Dali ◽  
M Wilke ◽  
W Grodd ◽  
...  
Keyword(s):  
Temporal Pattern ◽  
Metachromatic Leukodystrophy ◽  
Mri Changes

Compassionate Use of Simvastatin for a Patient with Juvenile Metachromatic Leukodystrophy

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
A. Bley ◽  
U. Löbel ◽  
J. Denecke
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Compassionate Use

Influence of Age and Type of First Symptoms on Disease Progression in Metachromatic Leukodystrophy

2019 ◽  
Author(s):  
Saskia Elgün ◽  
Christiane Kehrer ◽  
Christa Raabe ◽  
Judith Böhringer ◽  
Andrea Bevot ◽  
...  
Keyword(s):  
Disease Progression ◽  
Metachromatic Leukodystrophy

scholarly journals Artificially Induced Pluripotent Stem Cell-Derived Whole-Brain Organoid for Modelling the Pathophysiology of Metachromatic Leukodystrophy and Drug Repurposing

Biomedicines ◽  
2021 ◽  
Vol 9 (4) ◽  
pp. 440
Author(s):  
Sally Esmail ◽  
Wayne R. Danter
Keyword(s):  
Stem Cell ◽  
Disease Progression ◽  
Pluripotent Stem Cell ◽  
Metachromatic Leukodystrophy ◽  
Drug Repurposing ◽  
Induced Pluripotent Stem Cell ◽  
Whole Brain ◽  
Learning Platform ◽  
Brain Organoid ◽  
Induced Pluripotent

Metachromatic leukodystrophy (MLD) is a rare neurodegenerative disease that results from a deficiency of the lysosomal enzyme arylsulfatase A (ARSA). Worldwide, there are between one in 40,000 and one in 160,000 people living with the disease. While there are currently no effective treatments for MLD, induced pluripotent stem cell-derived brain organoids have the potential to provide a better understanding of MLD pathogenesis. However, developing brain organoid models is expensive, time consuming and may not accurately reflect disease progression. Using accurate and inexpensive computer simulations of human brain organoids could overcome the current limitations. Artificially induced whole-brain organoids (aiWBO) have the potential to greatly expand our ability to model MLD and guide future wet lab research. In this study, we have upgraded and validated our artificially induced whole-brain organoid platform (NEUBOrg) using our previously validated machine learning platform, DeepNEU (v6.2). Using this upgraded NEUBorg, we have generated aiWBO simulations of MLD and provided a novel approach to evaluate factors associated with MLD pathogenesis, disease progression and new potential therapeutic options.

scholarly journals Intravenous arylsulfatase A in metachromatic leukodystrophy: a phase 1/2 study

2020 ◽  
Author(s):  
Christine í Dali ◽  
Samuel Groeschel ◽  
Mihai Moldovan ◽  
Mohamed H. Farah ◽  
Ingeborg Krägeloh‐Mann ◽  
...  
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Phase 1 ◽  
Arylsulfatase A

Three Novel Mutant Arylsulfatase A Alleles Causing Metachromatic Leukodystrophy

2004 ◽  
Vol 29 (5) ◽  
pp. 933-942 ◽  
Author(s):  
Afshin Yaghootfam ◽  
Nicole Baumann ◽  
Andreas Schwarz ◽  
Volkmar Gieselmann
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Arylsulfatase A
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