Results 31 to 40 of about 15,059 (213)

Metachromatic leukodystrophy associated with choledochal cysts and gallbladder papillomatosis

Journal of Pediatric Surgery Case Reports, 2019
Metachromatic Leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by the deficiency of the enzyme arylsulfatase A which is responsible for the desulfation of cerebroside sulfate, a myelin glycolipid.
Raed Al-Taher, Fareed Khdair Ahmad, Mohammad Rashdan, Ibrahim Khrais, Sahar Almustafa   +4 more
doaj   +1 more source

A systematic review of clinical effectiveness and safety for historical and current treatment options for metachromatic leukodystrophy in children, including atidarsagene autotemcel

Orphanet Journal of Rare Diseases, 2023
Objective To understand the benefit-risk profile for historical and current treatments for MLD. Methods A systematic review was conducted on the effectiveness, safety, and costs of MLD treatments: allogeneic haematopoietic stem cell transplantation (HSCT)
N. Armstrong, A. Olaye, C. Noake, F. Pang   +3 more
semanticscholar   +1 more source

Infantile Metachromatic Leukodystrophy: Case Report

Case Reports in Clinical Practice, 2023
Metachromatic Leukodystrophy (MLD) is commonly characterized by the accumulation of sulfatide in various organs, including the central nervous system, leading to neurological and mental symptoms.
Salsabeel Hamad, Israa Abufara, Safaa Zagharneh, Taimaa Abureesh, Afnan W. M. Jobran   +4 more
doaj   +1 more source

An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy

Orphanet Journal of Rare Diseases, 2022
Background Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by mutations in the arylsulfatase A gene. Until now, there has been little information on the burden of MLD on patients and their caregivers.
C. Sevin, M. Barth, A. Wilds, A. Afriyie, Markus Walz, A. Dillon, K. Howie, F. Pang   +7 more
semanticscholar   +1 more source

Adult metachromatic leukodystrophy: case report

Неврология, нейропсихиатрия, психосоматика, 2021
Metachromatic leukodystrophy (MLD) is a hereditary lysosomal storage disease inherited in an autosomal recessive pattern, which occurs across all age groups.
T. I. Prusova, P. A. Reznichenko, K. D. Yakovleva, D. V. Dmitrenko   +3 more
doaj   +1 more source

Metallothioneins as dynamic markers for brain disease in lysosomal disorders [PDF]

, 2015
Objective: To facilitate development of novel disease-modifying therapies for lysosomal storage disorder (LSDs) characterized by nervous system involvement such as metachromatic leukodystrophy (MLD), molecular markers for monitoring disease progression ...
Biffi, Alessandra, Cavalca, Eleonora, Cesani, Martina, Comi, Giancarlo, Doglioni, Claudio, Furlan, Roberto, Leoncini, Giuseppe, Lorioli, Laura, Macco, Romina, Scherzer, Clemens R, Sessa, Maria, Terreni, Maria Rosa, Zacchetti, Daniele   +12 more
core   +1 more source

The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a Caregiver Survey in the UK and Republic of Ireland

Orphanet Journal of Rare Diseases, 2022
Metachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA).
Georgina Morton, Sophie Thomas, Patricia Roberts, Vivienne Clark, J. Imrie, Alexa Morrison   +5 more
semanticscholar   +1 more source

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants

Scientific Reports, 2021
This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological ...
Nejat Mahdieh, Mahdieh Soveizi, Ali Reza Tavasoli, Ali Rabbani, Mahmoud Reza Ashrafi, Alfried Kohlschütter, Bahareh Rabbani   +6 more
doaj   +1 more source

Unrecognized preanalytical problem with the spectrophotometric analysis of cerebrospinal fluid for xanthochromia [PDF]

, 2008
Udgivelsesdato: 2008 ...
Hansen, Annebirthe Bo, Kristensen, Susanne Tofting, Kristensen, Søren Risom, Salling, Anna Maria   +3 more
core   +1 more source

Rare case of gallbladder papiloma in children

Journal of Pediatric Surgery Case Reports, 2016
The incidence of villous papilloma of the gallbladder is rarely found amongst children. We report on a 9-year old girl known case of metachromatic leukodystrophy presented with abdominal distension. A radiological examination revealed massive ascites and
Gamal Abbas, Mansour A. Tawfeeq, Ashraf Alsharkawy   +2 more
doaj   +1 more source