Results 111 to 120 of about 21,243 (259)
Profound Cognitive Impairment as a Salient Feature of Multiple Sclerosis: A Case Report
Clinical and Experimental Neuroimmunology, Volume 17, Issue 1, February 2026.ABSTRACT Background Cognitive impairment affects up to two‐thirds of patients with multiple sclerosis (MS); however, profound global deficits, defined as a full‐scale IQ below 70, are uncommon and rarely constitute the primary symptom. Case Presentation We describe a 27‐year‐old woman with severe multidomain cognitive impairment due to MS ...
Shota Ito +3 more
wiley +1 more source
, 2013 Peroxisomes are essential organelles in higher eukaryotes as they play a major role in numerous metabolic pathways and redox homeostasis. Some peroxisomal abnormalities, which are often not compatible with life or normal development, were identified in ...
Geillon, Flore +7 more
core +2 more sources
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 +5 more
wiley +1 more source
The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India
Annals of Indian Academy of Neurology, 2016 Objective: The objective of this study is to retrospectively collect and then describe the clinico-radiographical profile of confirmed cases of leukodystrophy who presented over a 5-year period to a tertiary care teaching hospital in North India ...
Sheffali Gulati +5 more
doaj +1 more source
Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids [PDF]
, 2008 Very-long-chain fatty acids (VLCFAs) have long been known to be degraded exclusively in peroxisomes via beta-oxidation. A defect in peroxisomal beta-oxidation results in elevated levels of VLCFAs and is associated with the most frequent inherited ...
Dacremont, Georges +4 more
core +2 more sources
Alexander's disease and the story of Louise. [PDF]
, 2018 We describe the rare condition known as Alexander's disease or Alexander's leukodystrophy, which is essentially a childhood dementia. We then present the case of Louise Davies (we are using Louise's real name with the permission and special request of ...
Florschutz, G +2 more
core
Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells [PDF]
, 2004 Alessandra Biffi +11 more
openalex +1 more source
Frontiers in GeneticsThe leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile-onset macrocephaly and chronic edema of the brain white matter.
Emma M. J. Passchier +15 more
doaj +1 more source
Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]
, 2017 Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María +5 more
core