Results 71 to 80 of about 3,970 (184)

MOESM4 of Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective

, 2019
Additional file 4: Table S3. Ongoing clinical trials on metachromatic leukodystrophy (MLD). A summary of the ongoing clinical trials on treatment for metachromatic leukodystrophy, that are published on https://clinicaltrials.gov/ .
Shanice Beerepoot (7819016), Nicole Wolf (7819025), Marianna Bugiani (490560), Jaap Boelens (7819019), Caroline Lindemans (7819022), Stefan Nierkens (368570)   +5 more
core   +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, Susan Martin, Sheri E. Fehnel, Linda S. Deal   +3 more
doaj   +1 more source

Metachromatic Leukodystrophy: Too Frequent (Mis)Diagnosis

, 2018
Recently, Wu et al1 reported the case of an adult patient with late-onset cobalamin C disease who received an incorrect diagnosis of adult metachromatic leukodystrophy (MLD).
Politi, Letterio S., Biffi, Alessandra, Salsano, Ettore   +2 more
core   +1 more source

Metachromatic leukodystrophy

, 2021
Alexander Westphal, Miranda Farmer
  +4 more sources

Arylsulfatase activity in human urine: quantitative studies on patients with lysosomal disorders including metachromatic leukodystrophy

, 1972
A rapid and simple quantitative assay has been employed to measure the arylsulfatase A activity in urine samples from 173 individuals. This group includes three patients with late infantile metachromatic leukodystrophy (MLD), three patients with the ...
Thomas, G.H, Howell, R.R
core   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Metachromatic Leukodystrophy

, 2022
null Sudhir Saxena, null Rahul Dev, null Pradeep K. Roul, null Aditi Saini   +3 more
  +4 more sources

“IDS crossing of the Blood-Brain Barrier corrects CNS defects in MPSII mice”

, 2010
IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice Mucopolysaccharidosis type II (MPSII), or Hunter syndrome, arises from a deficiency in iduronate 2-sulfatase (IDS), and it is characterized by progressive somatic and ...
Polito, Vinicia Assunta
core  

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Microglia: The Effector Cell for Reconstitution of the Central Nervous System following Bone Marrow Transplantation for Lysosomal and Peroxisomal Storage Diseases

Cell Transplantation, 1995
Treatment and potential cure of lysosomal and peroxisomal diseases, heretofore considered fatal, has become a reality during the past decade. Bone marrow transplantation, (BMT), has provided a method for replacement of the disease-causing enzyme ...
William Krivit M.D., Ph.D., Joo Ho Sung, Elsa G. Shapiro, Lawrence A. Lockman   +3 more
doaj   +1 more source