Results 61 to 70 of about 3,970 (184)

Hematopoietic (stem) cells—The elixir of life?

FEBS Letters, Volume 600, Issue 4, Page 392-417, February 2026.
The aging of HSCs (hematopoietic stem cells) and the blood system leads to the decline of other organs. Rejuvenating aged HSCs improves the function of the blood system, slowing the aging of the heart, kidney, brain, and liver, and the occurrence of age‐related diseases.
Emilie L. Cerezo, Jonah Anderson, Emilie Dinh Vedrenne, Noël Yeh Martín, Jette Lengefeld   +4 more
wiley   +1 more source

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

BMC Research Notes, 2019
Objective To describe the genetic variants in the ARSA gene in Sri Lankan patients with metachromatic leukodystrophy (MLD). As the variant profile of MLD in the Sri Lankan population is currently unknown.
D. Hettiarachchi, V. H. W. Dissanayake
doaj   +1 more source

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency

Movement Disorders, Volume 41, Issue 2, Page 509-514, February 2026.
Abstract Background Allan‐Herndon‐Dudley syndrome (AHDS)/monocarboxylate transporter 8 (MCT8) deficiency is a rare X‐linked encephalopathy caused by SLC16A2 variants, impairing thyroid hormone (TH) transport into the brain. This leads to early central nervous system (CNS) TH deficiency, affecting brain maturation.
Fabio Bruschi, Ylenia Vaia, Clara E. Antonello, Marco Spada, Francesco Porta, Cristina Marinaccio, Claudia Carducci, Thomas Opladen, Jacopo Sartorelli, Federica Maria Zibordi, Daniele Ghezzi, Francesco Nicita, Davide Tonduti   +12 more
wiley   +1 more source

Biochemical profiling to predict disease severity in metachromatic leukodystrophy

, 2010
Metachromatic leukodystrophy is a neurodegenerative disease that is characterized by a deficiency of arylsulfatase A, resulting in the accumulation of sulfatide and other lipids in the lysosomal network of affected cells. Accumulation of sulfatide in the
Zabidi-Hussin, Z., Fuller, M., Tan, M., Hopwood, J., Meikle, P.   +4 more
core   +1 more source

Intrathecal baclofen in metachromatic leukodystrophy

, 2019
Metachromatic leukodystrophy (MLD) is a rare progressive neurological disorder, often accompanied by motor impairments that are challenging to treat.
Van Rappard, Diane F, Van Ouwerkerk, Willem Jr, Van Der Veldt, Nikki, Van Der Knaap, Marjo S, Becher, Jules G, Buizer, Annemieke I, Wolf, Nicole I, Van De Pol, Laura A   +7 more
core   +1 more source

Critical issues for the proper diagnosis of Metachromatic Leukodystrophy

, 2014
Metachromatic Leukodystrophy is a lysosomal storage disorder caused by Arylsulfatase A deficiency. Diagnosis is usually performed by measurement of enzymatic activity and/or characterization of the gene mutations.
Alessandra Biffi, Serena Grossi, MARTINO, Sabata, MORENA, FRANCESCO, Mirella Filocamo, Serena Acquati, Maria Sessa, Antonella Pini, Daniela Redaelli, Martina Cesani, Stefano Regis, Laura Lorioli, Francesca Fumagalli   +12 more
core   +2 more sources

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Medical Sciences
Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific, and thus, imaging techniques like MRI can be used for a more definitive diagnosis.
Rajvi N. Thakkar, Drashti Patel, Ivelina P. Kioutchoukova, Raja Al-Bahou, Pranith Reddy, Devon T. Foster, Brandon Lucke-Wold   +6 more
doaj   +1 more source

Central Precocious Puberty in a Child With Metachromatic Leukodystrophy

Frontiers in Endocrinology, 2018
Metachromatic leucodystrophy (MLD) is a rare inherited lysosomal disorder caused by reduced activity of the enzyme arylsulfatase A with accumulation of sulfatides in the nervous system.
Gilda Belli, Emanuele Bartolini, Emanuele Bartolini, Andrea Bianchi, Mario Mascalchi, Mario Mascalchi, Stefano Stagi   +6 more
doaj   +1 more source

Hematopoietic stem cell transplantation for late-onset Metachromatic Leukodystrophy

, 2010
Haematopoietic stem cell transplantation has an unproven role in the management of late-onset metachromatic leukodystrophy: theoretically justified through the engraftment of enzyme-replete haematopoietic progenitors and restoration of capacity for ...
Marcus, Robert, Sahakian, Barbara, Cox, Timothy M., Smith, Nicholas J., Barbara J. Sahakian, Narinder Kapur, Timothy M. Cox, Nicholas J. Smith, Robert E. Marcus, Kapur, Narinder   +9 more
core   +1 more source

Late Infantile Metachromatic Leukodystrophy 1례

, 1996
Metachromatic leukodystrophy (MLD) is a neurodegeneratve disease inherited as an autosomal recessive trait, in which sulfatide is excessively accumulated in the lysosomes of the central and peripheral nervous system as well as many other tissues ...
김, 성환, 노, 수용, 심, 철
core