Results 51 to 60 of about 3,164 (162)
Arylsulfatase A pseudodeficiency in healthy Brazilian individuals
Brazilian Journal of Medical and Biological Research, 1999 Molecular alterations associated with arylsulfatase A pseudodeficiency (ASA-PD) were characterized by PCR and restriction endonuclease analysis in a sample of healthy individuals from Brazil. ASA activity was also assayed in all subjects. Two individuals
C.G. Pedron +3 more
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 +12 more
wiley +1 more source
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
Remitting - Relapsing Polyneuropathy In Juvenile Metachromatic Leukodystrophy
Annals of Indian Academy of Neurology, 2004 A five-year-old girl manifested with acute relapsing polyradiculo-neuropathy. Elevated cerebrospinal fluid proteins, electro-physiological evidence of conduction block and remitting course suggested possible acquired demyelinating radiculoneuropathy ...
Taly AB +5 more
doaj
Leukodystrophy Imaging: Insights for Diagnostic Dilemmas
Medical SciencesLeukodystrophies, 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 +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 +6 more
doaj +1 more source
Development of the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities scale
Journal of Patient-Reported Outcomes, 2018 Background Metachromatic leukodystrophy (MLD) is a rare disease with three forms based on the age at onset of signs and symptoms. The objective of this study was to develop a caregiver-reported clinical outcome assessment that measures impairments in ...
T. Michelle Brown +3 more
doaj +1 more source