Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22

Author:

Coulter-Mackie M B,Rip J,Ludman M D,Beis J,Cole D E C

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference19 articles.

1. Metachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipidosis;Kolodny, E.H.; Fluharty, A.L.,1995

2. Structure of the arylsulfatase A gene;Kreysing, J.; Gieselmann, V.;EurjBiochem,1990

3. Molecular genetics of metachromatic leukodystrophy;Gieselmann, V.; Zlogotora, J.; Harris, A.; Wenger, D.; Morris, J.P.;Hum Mutat,1994

4. Gieselmann metachromatic V. Molecular basis of different forms of leukodystrophy;Polten, A.; Fluharty, A.L.; Fluharty, C.B.; Kappler, J.; von Figura, K.;N EnglJ Med,1991

5. Arylsulfatase A pseudodeficiency: loss of a polyadenylation signal;Gieselmann, V.; Polten, A.; Kreysing, J.; von Figura, K.,1989

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3. Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene;Journal of Molecular Neuroscience;2020-07-02

4. Mutation Update ofARSAandPSAPGenes Causing Metachromatic Leukodystrophy;Human Mutation;2015-11-04

5. Deletions and Other Structural Abnormalities of the Autosomes;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

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