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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2. Association of age at onset and first symptoms with disease progression in patients with metachromatic leukodystrophy;Kehrer;Neurology,2020

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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