Results 61 to 70 of about 7,353 (158)
Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis
Muscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho +8 more
wiley +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 +1 more source
Phenotypic variation between siblings with Metachromatic Leukodystrophy
Orphanet Journal of Rare Diseases, 2019 Background Metachromatic Leukodystrophy (MLD) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in the ARSA gene. While interventional trials often use untreated siblings as controls, the genotype-phenotype correlation is only ...
Saskia Elgün +10 more
doaj +1 more source
Arylsulfatase A pseudodeficiency incidence in Turkey
The Turkish Journal of Pediatrics, 2000 Pseudodeficiency (Pd) in arylsulfatase A (ASA) is a relatively frequent condition in healthy individuals. It produces a reduction in enzyme activity similar to that found in metachromatic leukodystrophy (MLD). A variable incidence of the Pd allele
S Emre, M Topçu, M Terzioğlu, Y Renda
doaj
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
A review of genetic modification for ex vivo cellular therapies
Transfusion, Volume 66, Issue S2, Page S45-S57, September 2026.
Anh Dinh, Nan Zhang, David Stroncek
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
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
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. +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 +7 more
core +1 more source