Results 31 to 40 of about 11,658 (188)

Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India

JIMD Reports, 2023
Metachromatic leukodystrophy (MLD) due to Sap‐B deficiency is a rare autosomal recessive disorder caused due to biallelic variants in the PSAP gene. The PSAP gene encodes a precursor protein prosaposin, which is subsequently cleaved to form four active ...
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Heli Shah, Naresh Tayade, C. Ratna Prabha, Frenny Sheth, Harsh Sheth   +7 more
doaj   +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

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

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

Substrate reduction therapy for Krabbe disease and metachromatic leukodystrophy using a novel ceramide galactosyltransferase inhibitor

Scientific Reports, 2021
Krabbe disease (KD) and metachromatic leukodystrophy (MLD) are caused by accumulation of the glycolipids galactosylceramide (GalCer) and sulfatide and their toxic metabolites psychosine and lysosulfatide, respectively.

semanticscholar   +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

Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy

Brain : a journal of neurology, 2021
Metachromatic leukodystrophy is a lethal metabolic leukodystrophy, with emerging treatments for early disease stages. Biomarkers to measure disease activity are required for clinical assessment and treatment follow-up.
Shanice Beerepoot, H. Heijst, B. Roos, M. Wamelink, J. Boelens, C. Lindemans, P. V. van Hasselt, E. Jacobs, M. S. van der Knaap, C. Teunissen, N. Wolf   +10 more
semanticscholar   +1 more source

A CASE REPORT OF JUVENILE FORM OF METACHROMATIC LEUKODYSTROPHY

Pakistan Armed Forces Medical Journal, 2021
Metachromatic Leukodystrophy is a lysosomal storage autosomal recessive disease characterized by arylsulphatase enzyme deficiency, with central and peripheral demyelination.
Muhammad Mohsin Sajjad, Sidra Yousaf
doaj  

Multi-Voxel 1H-MRS in Metachromatic Leukodystrophy

Journal of Central Nervous System Disease, 2013
Metachromatic leukodystrophy (MLD) is characterized by the accumulation of sulfatide sphingolipids in the brain and peripheral nerves. We report metabolite alterations recorded using multi-voxel proton spectroscopy of the brain in four children with MLD.
Mitra Assadi, Dah-Jyuu Wang, Yadira Velazquez-Rodriquez, Paola Leone   +3 more
doaj   +2 more sources

Treatment of adult metachromatic leukodystrophy model mice using intrathecal administration of type 9 AAV vector encoding arylsulfatase A

Scientific Reports, 2021
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by an arylsulfatase A (ARSA) deficiency and characterized by severe neurological symptoms resulting from demyelination within the central and peripheral nervous systems.
N. Miyake, K. Miyake, A. Sakai, Motoko Yamamoto, Hidenori Suzuki, T. Shimada   +5 more
semanticscholar   +1 more source