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.

October 8, 2020
Open Access

Synthesis of "All-Cis" Trihydroxypiperidines from a Carbohydrate-Derived Ketone: Hints for the Design of New β-Gal and GCase Inhibitors

Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry
Maria Giulia DavighiFrancesca Cardona
September 30, 2020

Co-occurrence of Metachromatic Leukodystrophy in Phelan-McDermid Syndrome

Journal of Child Neurology
Dararat MingbunjerdsukAngela Sun
August 8, 2020
Open Access

Composition-tuned metal-organic thin-film structures based on photoswitchable azobenzene by ALD/MLD

Dalton Transactions : an International Journal of Inorganic Chemistry
Aida KhayyamiMaarit Karppinen
July 4, 2020

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

Journal of Molecular Neuroscience : MN
Sifei WuZongbo Chen
August 29, 2020
Case Report
Open Access

Gallbladder cancer with ascites in a child with metachromatic leukodystrophy

Brain & Development
Kiri KoshuTakanori Yamagata
October 6, 2020
Open Access

Inhibition of fatty acid amide hydrolase prevents pathology in neurovisceral acid sphingomyelinase deficiency by rescuing defective endocannabinoid signaling

EMBO Molecular Medicine
Adrián BartollMaría Dolores Ledesma
November 24, 2020
Open Access

T2-Pseudonormalization and Microstructural Characterization in Advanced Stages of Late-infantile Metachromatic Leukodystrophy

Clinical Neuroradiology
Pascal MartinSamuel Groeschel
November 21, 2020
Open Access

Experimental Control and Statistical Analysis of Thermal Conductivity in ZnO-Benzene Multilayer Thin Films

The Journal of Physical Chemistry. C, Nanomaterials and Interfaces
Fabian KrahlMaarit Karppinen
October 11, 2020
Open Access

Arylsulfatase A (ASA) in Parkinson's Disease: From Pathogenesis to Biomarker Potential

Brain Sciences
Efthalia AngelopoulouChristina Piperi
December 18, 2020
Open Access

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

Annals of Clinical and Translational Neurology
Christine Í DaliChristian Krarup
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
September 11, 2020

Toward Reference Intervals of ARSA Activity in the Cerebrospinal Fluid: Implication for the Clinical Practice of Metachromatic Leukodystrophy

The Journal of Applied Laboratory Medicine
Francesco MorenaSabata Martino
September 3, 2020
Open Access

Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism

Molecular Genetics & Genomic Medicine
Liyuan GuoJing Wang
November 17, 2020
Open Access

Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches

Frontiers in Medicine
Alisa A ShaimardanovaAlbert A Rizvanov
September 20, 2020
Open Access

Generation of a human iPSC line (MPIi007-A) from a patient with Metachromatic leukodystrophy

Stem Cell Research
Kee-Pyo KimHans R Schöler
August 21, 2020
Open Access

Electrochemically Active In Situ Crystalline Lithium-Organic Thin Films by ALD/MLD

ACS Applied Materials & Interfaces
Jenna MultiaMaarit Karppinen
July 6, 2020
Open Access

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
November 21, 2020

Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Xinying HongMichael H Gelb

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