Results 71 to 80 of about 7,353 (158)

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, Emanuele Bartolini, Emanuele Bartolini, Andrea Bianchi, Mario Mascalchi, Mario Mascalchi, Stefano Stagi   +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, Susan Martin, Sheri E. Fehnel, Linda S. Deal   +3 more
doaj   +1 more source

Hematopoietic stem cell transplantation for late-onset Metachromatic Leukodystrophy

, 2010
Haematopoietic stem cell transplantation has an unproven role in the management of late-onset metachromatic leukodystrophy: theoretically justified through the engraftment of enzyme-replete haematopoietic progenitors and restoration of capacity for ...
Marcus, Robert, Sahakian, Barbara, Cox, Timothy M., Smith, Nicholas J., Barbara J. Sahakian, Narinder Kapur, Timothy M. Cox, Nicholas J. Smith, Robert E. Marcus, Kapur, Narinder   +9 more
core   +1 more source

Screening of phytoconstituents from Bacopa monnieri (L.) Pennell and Mucuna pruriens (L.) DC. to identify potential inhibitors against Cerebroside sulfotransferase.

PLoS ONE
Cerebroside sulfotransferase (CST) is considered a target protein in developing substrate reduction therapy for metachromatic leukodystrophy. This study employed a multistep virtual screening approach for getting a specific and potent inhibitor against ...
Nivedita Singh, Anil Kumar Singh
doaj   +1 more source

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

Critical issues for the proper diagnosis of Metachromatic Leukodystrophy

, 2014
Metachromatic Leukodystrophy is a lysosomal storage disorder caused by Arylsulfatase A deficiency. Diagnosis is usually performed by measurement of enzymatic activity and/or characterization of the gene mutations.
Alessandra Biffi, Serena Grossi, MARTINO, Sabata, MORENA, FRANCESCO, Mirella Filocamo, Serena Acquati, Maria Sessa, Antonella Pini, Daniela Redaelli, Martina Cesani, Stefano Regis, Laura Lorioli, Francesca Fumagalli   +12 more
core   +2 more sources

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

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

A study on enzyme activities of some sphingolipidoses

The Turkish Journal of Pediatrics, 1994
Enzyme activities were determined in fibroblast cell cultures of eight patients suspected of having a type of sphingolipidosis. The patients were 0 to 4 years of age; four were female and four were male.
H A Ozkara, M C Arikan, M Topçu, S Emre, Y Renda   +4 more
doaj  

Biochemical pathogenesis of genetic leukodystrophies: comparison of metachromatic leukodystrophy and globoid cell leukodystrophy (Krabbe\u27s disease).

, 1984
Among the genetic leukodystrophies known to occur in man, the fundamental genetic defects have been clarified in two disorders, metachromatic leukodystrophy and globoid cell leukodystrophy (Krabbe\u27s disease).
Suzuki, K, Samy, Ravi N, MD
core   +1 more source