Results 71 to 80 of about 15,059 (213)

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

Movement Disorders, EarlyView.
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

Metachromatic leukodystrophy: A case report

Bangabandhu Sheikh Mujib Medical University Journal, 2016
Metachromatic leuk:odystrophy (MLD) is a rare neurometabolic disease caused by the deficiency of the enzyme arylsulfa­tase A .Deficiency of this enzyme results in intralysosomal storage ofsphingolipid , cerebroside 3-sulfates (sulfatides), which are ...
Gopen Kumar Kundu, Shaheen Akhter, M. Mizanur Rahman   +2 more
doaj   +1 more source

Kinetika i aktivnost leukocitne arilsulfataze A u osoba s dijagnozom cerebralne paralize [PDF]

, 2006
Activity and kinetics of arylsulfatase A (ASA, EC 3.1.6.8) were analyzed in leukocyte homogenates derived from patients suffering from cerebral palsy.
BLAZENKA FORETIC, IVANA FURAC, SVJETLANA KALANJ BOGNAR, ZDRAVKO GRUBESIC, ZELJKA VUKELIC   +4 more
core   +1 more source

Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice [PDF]

, 2015
OBJECTIVE: The lysosomal storage disease alpha‐mannosidosis is caused by the deficiency of the lysosomal acid hydrolase alpha‐mannosidase (LAMAN) leading to lysosomal accumulation of neutral mannose‐linked oligosaccharides throughout the body, including ...
Andersson, Claes, Beck, Hans Christian, Blanz, Judith, Damme, Markus, D’Hooge, Rudi, Ericsson, Annika, Fogh, Jens, Lüdemann, Meike, Lüllmann-Rauch, Renate, Rothaug, Michelle, Saftig, Paul, Stroobants, Stijn   +11 more
core   +2 more sources

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions

Traffic, Volume 27, Issue 1, March 2026.
Lysosomal exocytosis is propelled by specific molecular mechanisms that direct its microtubule‐dependent transport and subsequent fusion with the plasma membrane. This process fulfills essential physiological functions such as plasma membrane repair, maintenance of cellular homeostasis, and participation in signal transduction.
Shanshan Jiang, Jingyi Fu, Shan Li, Zehui Li, Qirui Zhao, Yuqi Yin, Mei Yang, Yonghua Wang   +7 more
wiley   +1 more source

Leukodystrophy in children. Globoid cell leukodystrophy. Clinical case [PDF]

, 2023
 Annotation: Pediatric globoid cell leukodystrophy (GLD, or Crabbe's disease) is a rare hereditary degenerative disease of the central and peripheral nervous systems.
Mamatkulova Mahbuba Tojialiyevna
core   +2 more sources

Artificially Induced Pluripotent Stem Cell-Derived Whole-Brain Organoid for Modelling the Pathophysiology of Metachromatic Leukodystrophy and Drug Repurposing

Biomedicines, 2021
Metachromatic leukodystrophy (MLD) is a rare neurodegenerative disease that results from a deficiency of the lysosomal enzyme arylsulfatase A (ARSA). Worldwide, there are between one in 40,000 and one in 160,000 people living with the disease.
S. Esmail, W. Danter
semanticscholar   +1 more source

Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 251-262, February 2026.
In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo, Fleur Vansenne, Jessika F. van Hoorn, Marina A. J. Tijssen, Dineke S. Verbeek, Deborah A. Sival   +5 more
wiley   +1 more source

Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy [PDF]

, 2017
OBJECTIVE: To provide an overview of the phenotype of 2 clinically, radiologically, and pathologically similar leukodystrophies, adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and alanyl-transfer RNA synthetase 2 mutation-
Adams, ME, Chataway, J, Davagnanam, I, Fox, NC, Houlden, H, Kinsella, JA, Lakshmanan, R, Lynch, DS, Murphy, E, Phadke, R, Rohrer, JD, Schott, JM   +11 more
core   +1 more source