Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges-Reference-Cited by-同舟云学术

Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges

Published:2022-11 Issue:3 Volume:137 Page:273-282
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Santhanakumaran Vidiyaah,Groeschel Samuel,Harzer Klaus,Kehrer Christiane,Elgün Saskia,Beck-Wödl Stefanie,Hengel Holger,Schöls Ludger,Haack Tobias B.,Krägeloh-Mann Ingeborg,Laugwitz Lucia

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference26 articles.

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3. The natural course of gross motor deterioration in metachromatic leukodystrophy;Kehrer;Dev. Med. Child Neurol.,2011

4. Development and reliability of a classification system for gross motor function in children with metachromatic leucodystrophy;Kehrer;Dev. Med. Child Neurol.,2011

5. Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort;Kehrer;Orphanet J. Rare Dis.,2014

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1. Effects of sulfatide on peripheral nerves in metachromatic leukodystrophy;Annals of Clinical and Translational Neurology;2023-12-26

2. Inflammation and autophagy dysfunction in metachromatic leukodystrophy: a central role for mTOR?;2023-09-14

3. Identification of a Novel ARSA Gene Mutation Through High-Throughput Molecular Diagnosis Method in Two Girls with Late Infantile Metachromatic Leukodystrophy;NeuroMolecular Medicine;2023-09-08

4. Metachromatic leukodystrophy: To screen or not to screen?;European Journal of Paediatric Neurology;2023-09

5. An in silico approach to identify early damage biomarker candidates in metachromatic leukodystrophy;Molecular Genetics and Metabolism Reports;2023-06