Results 11 to 20 of about 5,931 (183)

Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches

Frontiers in Medicine, 2020
Metachromatic leukodystrophy is a lysosomal storage disease, which is characterized by damage of the myelin sheath that covers most of nerve fibers of the central and peripheral nervous systems.
Alisa A. Shaimardanova, Daria S. Chulpanova, Daria S. Chulpanova, Valeriya V. Solovyeva, Valeriya V. Solovyeva, Aysilu I. Mullagulova, Kristina V. Kitaeva, Cinzia Allegrucci, Albert A. Rizvanov   +8 more
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Metachromatic leukodystrophy associated with choledochal cysts and gallbladder papillomatosis

Journal of Pediatric Surgery Case Reports, 2019
Metachromatic Leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by the deficiency of the enzyme arylsulfatase A which is responsible for the desulfation of cerebroside sulfate, a myelin glycolipid.
Raed Al-Taher, Fareed Khdair Ahmad, Mohammad Rashdan, Ibrahim Khrais, Sahar Almustafa   +4 more
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Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction

Annals of Clinical and Translational Neurology, 2020
Objective In metachromatic leukodystrophy, a lysosomal storage disorder due to decreased arylsulfatase A activity, hematopoietic stem cell transplantation may stop brain demyelination and allow remyelination, thereby halting white matter degeneration ...
Nicole I. Wolf, Marjolein Breur, Bonnie Plug, Shanice Beerepoot, Aimee S. R. Westerveld, Diane F. vanRappard, Sharon I. deVries, Maarten H. P. Kole, Adeline Vanderver, Marjo S. van derKnaap, Caroline A. Lindemans, Peter M. vanHasselt, Jaap J. Boelens, Ulrich Matzner, Volkmar Gieselmann, Marianna Bugiani   +15 more
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Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India

JIMD Reports, 2023
Metachromatic leukodystrophy (MLD) due to Sap‐B deficiency is a rare autosomal recessive disorder caused due to biallelic variants in the PSAP gene. The PSAP gene encodes a precursor protein prosaposin, which is subsequently cleaved to form four active ...
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Heli Shah, Naresh Tayade, C. Ratna Prabha, Frenny Sheth, Harsh Sheth   +7 more
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Infantile Metachromatic Leukodystrophy: Case Report

Case Reports in Clinical Practice, 2023
Metachromatic Leukodystrophy (MLD) is commonly characterized by the accumulation of sulfatide in various organs, including the central nervous system, leading to neurological and mental symptoms.
Salsabeel Hamad, Israa Abufara, Safaa Zagharneh, Taimaa Abureesh, Afnan W. M. Jobran   +4 more
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Adult metachromatic leukodystrophy: case report

Неврология, нейропсихиатрия, психосоматика, 2021
Metachromatic leukodystrophy (MLD) is a hereditary lysosomal storage disease inherited in an autosomal recessive pattern, which occurs across all age groups.
T. I. Prusova, P. A. Reznichenko, K. D. Yakovleva, D. V. Dmitrenko   +3 more
doaj   +1 more source

Metallothioneins as dynamic markers for brain disease in lysosomal disorders [PDF]

, 2015
Objective: To facilitate development of novel disease-modifying therapies for lysosomal storage disorder (LSDs) characterized by nervous system involvement such as metachromatic leukodystrophy (MLD), molecular markers for monitoring disease progression ...
Biffi, Alessandra, Cavalca, Eleonora, Cesani, Martina, Comi, Giancarlo, Doglioni, Claudio, Furlan, Roberto, Leoncini, Giuseppe, Lorioli, Laura, Macco, Romina, Scherzer, Clemens R, Sessa, Maria, Terreni, Maria Rosa, Zacchetti, Daniele   +12 more
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Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants

Scientific Reports, 2021
This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological ...
Nejat Mahdieh, Mahdieh Soveizi, Ali Reza Tavasoli, Ali Rabbani, Mahmoud Reza Ashrafi, Alfried Kohlschütter, Bahareh Rabbani   +6 more
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Unrecognized preanalytical problem with the spectrophotometric analysis of cerebrospinal fluid for xanthochromia [PDF]

, 2008
Udgivelsesdato: 2008 ...
Hansen, Annebirthe Bo, Kristensen, Susanne Tofting, Kristensen, Søren Risom, Salling, Anna Maria   +3 more
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Rare case of gallbladder papiloma in children

Journal of Pediatric Surgery Case Reports, 2016
The incidence of villous papilloma of the gallbladder is rarely found amongst children. We report on a 9-year old girl known case of metachromatic leukodystrophy presented with abdominal distension. A radiological examination revealed massive ascites and
Gamal Abbas, Mansour A. Tawfeeq, Ashraf Alsharkawy   +2 more
doaj   +1 more source