Results 101 to 110 of about 14,351 (228)

Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice [PDF]

, 2008
Saposin B derives from the multi-functional precursor, prosaposin, and functions as an activity enhancer for several glycosphingolipid (GSL) hydrolases. Mutations in saposin B present in humans with phenotypes resembling metachromatic leukodystrophy.
Azuma, C. V. Vorhees, D. P. Witte, De Haas, Eckhardt, Fewou, Fujita, F  rst, G. A. Grabowski, Gordon, H. Cheng, H. Ran, Han, Harzer, Hess, Hiraiwa, Holtschmidt, Hulkova, Hurwitz, Ioannou, Jiang, Li, Li, Li, M. R. Skelton, M. T. Williams, M. Zamzow, Matsuda, Nakano, O'Brien, Ohshima, Phaneuf, P  mpols, Qi, Rafi, Rorman, S. Barnes, Salvioli, Sandhoff, Schnabel, Sun, Tybulewicz, Wrobe, X. Han, Xu, Y. Sun, Zhang, Zschoche   +47 more
core   +3 more sources

Prognostic Factors Associated With Increased Mortality in Pediatric Veno‐Occlusive Disease Following Hematopoietic Cell Transplantation

Clinical Transplantation, Volume 38, Issue 12, December 2024.
ABSTRACT Background Hepatic veno‐occlusive disease (VOD) is a life‐threatening complication of hematopoietic cell transplantation (HCT) and is categorized as a transplant‐related, systemic endothelial disease. Severe VOD can lead to multi‐organ dysfunction (MOF) and is associated with a high mortality rate. Objective To evaluate the incidence of VOD in
Irina Zaidman, Natalie Barsoum, Ehud Even‐Or, Miriam Daher, Adi Avniel Aran, Polina Stepensky, Aharon Gefen   +6 more
wiley   +1 more source

Neonatal Gene Therapy for Inherited Disorders [PDF]

, 2017
In spite of developments of neonatal intensive care medicine, it is still difficult or impossible to treat several inherited genetic disorders using conventional pharmacological methods.
Miyake, Koichi, Miyake, Noriko, Shimada, Takashi   +2 more
core   +1 more source

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia

Epilepsia, Volume 65, Issue 11, Page 3303-3323, November 2024.
Abstract Objective POLR3B encodes the second largest subunit of RNA polymerase III, which is essential for transcription of small non‐coding RNAs. Biallelic pathogenic variants in POLR3B are associated with an inherited hypomyelinating leukodystrophy.
Joseph D. Symonds, Kristen L. Park, Cyril Mignot, Stewart Macleod, Martin Armstrong, Houman Ashrafian, Geneviève Bernard, Kathleen Brown, Andreas Brunklaus, Mary Callaghan, Georg Classen, Julie S. Cohen, Ioana Cutcutache, Jean‐Madeleine de Sainte Agathe, David Dyment, Katherine S. Elliot, Arnaud Isapof, Shelagh Joss, Boris Keren, Michael Marble, Amy McTague, Matthew Osmond, Matthew Page, Marc Planes, Konrad Platzer, Sylvia Redon, James Reese, Margarita Saenz, Constance Smith‐Hicks, Daniel Stobo, Christian Stockhaus, Marie‐Laure Vuillaume, Nicole I. Wolf, Emma L. Wakeling, Grace Yoon, Julian C. Knight, Sameer M. Zuberi   +36 more
wiley   +1 more source

Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)

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

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, P.A. Gaspar, R. Giugliani, M.L.S. Pereira   +3 more
doaj   +1 more source

Structure and composition of sulfatides isolated from livers of patients with metachromatic leukodystrophy: galactosyl sulfatide and lactosyl sulfatide

Journal of Lipid Research, 1974
The livers of four patients with metachromatic leukodystrophy contained galactosyl sulfatide and lactosyl sulfatide, whereas these substances were undetectable in normal human liver.
Mutsumi Sugita, John T. Dulaney, Hugo W. Moser   +2 more
doaj  

Leucodystrophies at children [PDF]

, 2023
Introduction   Leukodystrophies involve a diverse group of rare hereditary disorders mostly affecting the white matter of the central nervous system, which straddleses nerves and glial cells.
Chrościńska-Krawczyk, Magdalena, Rzewuska, Anna, Sielwanowska, Wiktoria, Syzdoł, Bartłomiej, Żybowska, Monika   +4 more
core   +1 more source

An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient [PDF]

, 2003
n/
Corsolini, Fabio, Di Duca, Marco, Filocamo, Mirella, Regis, Stefano, Ricci, Verena   +4 more
core   +1 more source

Remitting - Relapsing Polyneuropathy In Juvenile Metachromatic Leukodystrophy

Annals of Indian Academy of Neurology, 2004
A five-year-old girl manifested with acute relapsing polyradiculo-neuropathy. Elevated cerebrospinal fluid proteins, electro-physiological evidence of conduction block and remitting course suggested possible acquired demyelinating radiculoneuropathy ...
Taly AB, Santosh V, Balamurugan N, Arunodaya GR, Christopher R, Jayakumar PN   +5 more
doaj