TSEN54 missense variant in Standard Schnauzers with leukodystrophy. by Theresa Störk, Jasmin Nessler, Linda Anderegg, Enrice Hünerfauth, Isabelle Schmutz, Vidhya Jagannathan, Kaisa Kyöstilä, Hannes Lohi, Wolfgang Baumgärtner, Andrea Tipold, Tosso Leeb

“…The genotypes at the c.371G>A variant were perfectly associated with the leukodystrophy phenotype in 12 affected Standard Schnauzers and almost 1000 control dogs from different breeds. …”
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Multi-Voxel 1H-MRS in Metachromatic Leukodystrophy by Mitra Assadi, Dah-Jyuu Wang, Yadira Velazquez-Rodriquez, Paola Leone

“…Metachromatic leukodystrophy (MLD) is characterized by the accumulation of sulfatide sphingolipids in the brain and peripheral nerves. …”
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A systematic review on the birth prevalence of metachromatic leukodystrophy by Shun-Chiao Chang, Aurore Bergamasco, Mélanie Bonnin, Teigna Arredondo Bisonó, Yola Moride

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Central Precocious Puberty in a Child With Metachromatic Leukodystrophy by Gilda Belli, Emanuele Bartolini, Emanuele Bartolini, Andrea Bianchi, Mario Mascalchi, Mario Mascalchi, Stefano Stagi

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Fatal leukodystrophy in Costello syndrome: a case report by Virgilio E. Failoc-Rojas, Piero A. Quiroz Ugaz, Dante A. Loconi León, Sandra Zeña-Ñañez

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Severe Acute Disseminated Encephalomyelitis Mimicking Leukodystrophy in a Child by Amna Al-Futaisi, Faisal Al-Azri, Anas A. Abdelmogheth, Fathiya Al-Murshedi, Roshan Koul

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Leukodystrophy presenting as hyperactivity and bipolarity with uncommon adverse drug reaction by Roshan Sutar, Anirban Ray, Shekhar P Sheshadri

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Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective by Shanice Beerepoot, Stefan Nierkens, Jaap Jan Boelens, Caroline Lindemans, Marianna Bugiani, Nicole I. Wolf

Subjects: “…Metachromatic leukodystrophy…”
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The multicellular interplay of microglia in health and disease: lessons from leukodystrophy by Woutje M. Berdowski, Leslie E. Sanderson, Tjakko J. van Ham

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Severe Acute Disseminated Encephalomyelitis Mimicking Leukodystrophy in a Child by Amna Al-Futaisi, Faisal Al-Azri, Anas A. Abdelmogheth, Fathiya Al-Murshedi, Roshan Koul

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Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers by Magdalena Harrington, Diane Whalley, James Twiss, Rebecca Rushton, Susan Martin, Lynn Huynh, Hongbo Yang

Subjects: “…Metachromatic leukodystrophy…”
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POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches by Stefanie Perrier, Stefanie Perrier, Mackenzie A. Michell-Robinson, Mackenzie A. Michell-Robinson, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard

Subjects: “…POLR3-related leukodystrophy…”
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Existing Evidence for the Repurposing of PARP-1 Inhibitors in Rare Demyelinating Diseases by Marianna Mekhaeil, Kumlesh Kumar Dev, Melissa Jane Conroy

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Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy by Daphne H. Schoenmakers, Shanice Beerepoot, Ingeborg Krägeloh‐Mann, Saskia Elgün, Benjamin Bender, Marjo S. van derKnaap, Nicole I. Wolf, Samuel Groeschel

“…Abstract Objectives Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. …”
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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

Subjects: “…leukodystrophy…”
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A closer look at ARSA activity in a patient with metachromatic leukodystrophy by Kathleen Doherty, S. Barron Frazier, Matthew Clark, Anna Childers, Sumit Pruthi, David A. Wenger, Jessica Duis

“…Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. …”
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Canavan Disease as a Rare Cause of Leukodystrophy: MRI and MRS Findings by Mehmet Haydar Atalar, Enes Gül, İrfan Atik, Özlem Kayım Yıldız

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The Energy Status of Astrocytes Is the Achilles’ Heel of eIF2B-Leukodystrophy by Melisa Herrero, Maron Daw, Andrea Atzmon, Orna Elroy-Stein

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Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy by Murtadha Al‐Saady, Shanice Beerepoot, Bonnie C. Plug, Marjolein Breur, Hristina Galabova, Petra J. W. Pouwels, Jaap‐Jan Boelens, Caroline Lindemans, Peter M. vanHasselt, Ulrich Matzner, Adeline Vanderver, Marianna Bugiani, Marjo S. van derKnaap, Nicole I. Wolf

“…Abstract Objective Metachromatic leukodystrophy is a lysosomal storage disease caused by deficient arylsulfatase A. …”
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Where leukodystrophy and storage disorder meet: A rare cause of neurodegeneration by Apurva Medha, Abhishek Pandey, Arushi G Saini, Vikas Bhatia

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