Results 41 to 50 of about 5,931 (183)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder

Neurobiology of Disease, 2004
Metachromatic leukodystrophy (MLD) is a lysosomal lipid storage disease caused by arylsulfatase A deficiency. In MLD patients the sphingolipid sulfatide increasingly accumulates leading to progressive demyelination.
K Saravanan, N Schaeren-Wiemers, D Klein, R Sandhoff, A Schwarz, A Yaghootfam, V Gieselmann, S Franken   +7 more
doaj   +1 more source

Diagnostic issues and clinical spectrum of childhood degenerative brain diseases [PDF]

, 2014
To find out the spectrum of clinical presentation and typesof neurodegenerative disorders of childhoodin tertiary care child neurology centre of Pakistan. To find out the role of brain imaging in the diagnosis of degenerative brain disorders in children.
Ameer Khan, Ashfa, Arshad Khawaja, Muhammad, Rahman, Zia ur, Sultan, Tipu, Waheed Rathore, Ahsan   +4 more
core   +1 more source

Creating New β-Globin-Expressing Lentiviral Vectors by High-Resolution Mapping of Locus Control Region Enhancer Sequences. [PDF]

, 2020
Hematopoietic stem cell gene therapy is a promising approach for treating disorders of the hematopoietic system. Identifying combinations of cis-regulatory elements that do not impede packaging or transduction efficiency when included in lentiviral ...
Aleshe, Bamidele, Ayoub, Paul George, Brown, Devin, Hollis, Roger P, Kohn, Donald B, Kurita, Ryo, Lathrop, Lindsay, Ma, Feiyang, Morgan, Richard A, Nakamura, Yukio, Pellegrini, Matteo, Senadheera, Shantha, Tam, Curtis, Unti, Mildred J, Wong, Ryan L   +14 more
core   +1 more source

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

Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study

Molecular Genetics and Metabolism Reports
Metachromatic leukodystrophy is a rare autosomal recessive disease. There are three forms of this disease, all of which result in cognitive and motor dysfunctions.
Yuta Koto, Wakana Yamashita, Norio Sakai
doaj   +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, EarlyView.
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