Metachromatic Leukodystrophy

Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids. Discover the latest research on metachromatic leukodystrophy here.

March 3, 2020
Case Report

Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome

Brain & Development
Hyunji AhnBeom Hee Lee
October 30, 2019

Changes in lung volume parameters regarding the received dose in the lobes of the lungs after locoregional radiotherapy of breast cancer

Reports of Practical Oncology and Radiotherapy : Journal of Greatpoland Cancer Center in Poznań and Polish Society of Radiation Oncology
Mahsa AbdemanafiIraj Abedi
December 13, 2019

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies

Expert Review of Neurotherapeutics
Mahmoud Reza AshrafiAli Reza Tavasoli
July 4, 2020

Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene

Journal of Molecular Neuroscience : MN
Sifei WuZongbo Chen
September 22, 2019

Validation study of the association between genetic variant of IL4 and severe radiation pneumonitis in lung cancer patients treated with radiation therapy

Radiotherapy and Oncology : Journal of the European Society for Therapeutic Radiology and Oncology
Yang TangXiang'lin Yuan
May 1, 2020

Long-term normalization of cognitive and psychopathological alterations in a juvenile Niemann-Pick type C case

Neurodegenerative Disease Management
María de la Concepción Fournier Del CastilloLuis González Gutiérrez-Solana
May 21, 2020
Open Access

Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis

Molecular Genetics & Genomic Medicine
Jesús A Juárez-OsunaJosé E García-Ortiz
February 27, 2020
Review
Open Access

Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease

Journal of Clinical Medicine
Silvia PaciottiTommaso Beccari
October 22, 2019

CEST MRI quantification procedures for breast cancer treatment-related lymphedema therapy evaluation

Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine
Rachelle CrescenziManus J Donahue
January 11, 2020
Case Report

Analysis of ARSA gene variant in an infant with late infantile metachromatic leukodystrophy

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Ruohao WuXiangyang Luo
July 6, 2020

A systematic review and meta-analysis of published cases reveals the natural disease history in Multiple Sulfatase Deficiency

Journal of Inherited Metabolic Disease
Lars SchlotawaTim Friede
April 9, 2020
Review
Open Access

Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives

International Journal of Molecular Sciences
Benita Claire PercivalMartin Grootveld
January 8, 2020
Open Access

β-Galactosylceramidase Deficiency Causes Bone Marrow Vascular Defects in an Animal Model of Krabbe Disease

International Journal of Molecular Sciences
Mirella BelleriArianna Giacomini
November 28, 2019
Review
Open Access

Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy

International Journal of Molecular Sciences
Renato Santos, Olga Amaral
January 11, 2020

Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry

Analytical Chemistry
Xinying HongMichael H Gelb

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