Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography-tandem mass spectrometry[S]

by Mina Mirzaian, Gertjan Kramer, Ben J.H.M. Poorthuis
Published 2015-04-01

Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)

by D. Hettiarachchi, V. H. W. Dissanayake
Published 2019-11-01

Metachromatic Leukodystrophy

by J Gordon Millichap
Published 1990-01-01

Metachromatic leukodystrophy: A case report

by Gopen Kumar Kundu, Shaheen Akhter, M. Mizanur Rahman
Published 2016-07-01

Arylsulfatase A pseudodeficiency in healthy Brazilian individuals

by C.G. Pedron, P.A. Gaspar, R. Giugliani, M.L.S. Pereira
Published 1999-08-01

Metachromatic Leukodystrophy Variants

by J Gordon Millichap
Published 1993-08-01

Molecular Basis of Metachromatic Leukodystrophies

by J Gordon Millichap
Published 1991-02-01

Metachromatic leukodystrophy

by Prima Cheryl D′souza, Archanaa Vignesh, K Subaschandra, P John Mathai
Published 2013-01-01

Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses

by Sebastian Strobel, Naomi Hesse, Vidiyaah Santhanakumaran, Samuel Groeschel, Gernot Bruchelt, Ingeborg Krägeloh-Mann, Judith Böhringer
Published 2020-11-01

Phenotypic variation between siblings with Metachromatic Leukodystrophy

by Saskia Elgün, Jakob Waibel, Christiane Kehrer, Diane van Rappard, Judith Böhringer, Stefanie Beck-Wödl, Jennifer Just, Ludger Schöls, Nicole Wolf, Ingeborg Krägeloh-Mann, Samuel Groeschel
Published 2019-06-01

Degenerative Ataxic Disorders

by J Gordon Millichap
Published 1987-12-01

The Differential Diagnosis of “Tigroid Pattern” on Brain Magnetic Resonance Imaging: A Case Report

by Nihan Hande Akcakaya
Published 2019-06-01

Use of a neuron-glia genome-scale metabolic reconstruction to model the metabolic consequences of the Arylsulphatase a deficiency through a systems biology approach

by Olga Y. Echeverri-Peña, Diego A. Salazar-Barreto, Alexander Rodríguez-Lopez, Janneth González, Carlos J. Alméciga-Díaz, Cristian H. Verano-Guevara, Luis A. Barrera
Published 2021-07-01

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

by Majid Alfadhel, Majid Alfadhel, Majid Alfadhel, Mohammed Almuqbil, Mohammed Almuqbil, Fuad Al Mutairi, Fuad Al Mutairi, Muhammad Umair, Mohammed Almannai, Malak Alghamdi, Hamad Althiyab, Rayyan Albarakati, Fahad A. Bashiri, Walaa Alshuaibi, Duaa Ba-Armah, Duaa Ba-Armah, Mohammed A. Saleh, Ali Al-Asmari, Eissa Faqeih, Waleed Altuwaijri, Waleed Altuwaijri, Ahmed Al-Rumayyan, Ahmed Al-Rumayyan, Mohammed Ali Balwi, Mohammed Ali Balwi, Faroug Ababneh, Abdulrahman Faiz Alswaid, Abdulrahman Faiz Alswaid, Wafaa M. Eyaid, Wafaa M. Eyaid, Naif A. M. Almontashiri, Naif A. M. Almontashiri, Amal Alhashem, Amal Alhashem, Khalid Hundallah, Aida Bertoli-Avella, Peter Bauer, Christian Beetz, Muhammad Talal Alrifai, Muhammad Talal Alrifai, Ahmed Alfares, Ahmed Alfares, Brahim Tabarki
Published 2021-05-01

Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations

by Dehghan Manshadi M, Kamalidehghan B, Aryani O, Khalili E, Dadgar S, Tondar M, Ahmadipour F, Yong Meng G, Houshmand M
Published 2017-06-01

Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis

by Jesús A. Juárez‐Osuna, Sandra C. Mendoza‐Ruvalcaba, Angela Porras‐Dorantes, Thiago D. Da Silva‐José, José E. García‐Ortiz
Published 2020-08-01

An interesting case of Leigh-like syndrome

by K Bharani, G Gnanashanmugam, V Kamaraj, S Balasubramanian
Published 2012-01-01

Brain MRI and biological diagnosis in five Tunisians MLD patients

by Barboura Ilhem, Hadded Samir, Chebel Saber, Mansour Rachida, Chahed Hinda, Gueddiche Mohamed-Néji, Frih-Ayed Mahbouba, Ferchichi Salima, Miled Abdelhédi
Published 2012-01-01

Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder

by Neda Golchin, Mohammadreza Hajjari, Reza Azizi Malamiri, Majid Aminzadeh, Javad Mohammadi-asl
Published 2017-11-01

Screening for Sphingolipid-Storage Diseases

by J Gordon Millichap
Published 1999-09-01