Results 71 to 80 of about 2,664 (184)

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, Volume 12, Issue 11, Page 2193-2205, November 2025.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source

Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Imaging literature on propionic acidemia (PA) is predominantly concerned with deep gray matter changes. In order to investigate the spectrum and patterns of MRI changes, 45 MRI scans of 13 patients (0.31–33.2 years) were systematically analyzed. Deep and cortical gray matter changes were associated with acute metabolic decompensation. Striatum
Hannah Fels‐Palesandro, Friederike Hörster, Dorothea Haas, Florian Gleich, Sven F. Garbade, Stefan Kölker, Inga Harting   +6 more
wiley   +1 more source

Canavan Disease: Three Cases Report

, 2013
Canavan hastalığı, aspartoaçilaz enziminin yetersiz fonksiyon göstermesine bağlı olarak gelişen otozomal resesif bir hastalıktır. Makrosefali, hipotoni, gelişme geriliği, nöbetler, optik atrofi ve distoni gibi klinik bulgular eşlik edebilmektedir ...
Şakir Altunbaşak, M. Özlem Hergüner, Efsun Gargun Sızmaz, Faruk İncecik   +3 more
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iEcology reveals the importance of geography and genetic makeup in the flowering phenology of invasive Carpobrotus taxa

Ecological Solutions and Evidence, Volume 6, Issue 4, October–December 2025.
Scientists use social media to track the flowering of an invasive coastal plant across six countries. Photographs from Instagram, iNaturalist and Google Maps showed that Carpobrotus plants flower at different times based on location, not genetics. The invasive populations flower longer than native ones in South Africa, which may help explain their ...
Susan Canavan, Jonatan Rodríguez, Paula Gervazoni, Pavel Pipek, Johannes J. Le Roux, María L. Castillo, Deah Lieurance, Desika Maříková‐Moodley, Petr Pyšek, Ana Novoa   +9 more
wiley   +1 more source

Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P)

BMC Medical Genetics, 2006
Background Gaucher disease is a potentially severe lysosomal storage disorder caused by mutations in the human glucocerebrosidase gene (GBA). We have developed a multiplexed genetic assay for eight diseases prevalent in the Ashkenazi population: Tay ...
Lahey Cora, Brown Justin T, Laosinchai-Wolf Walairat, Hadd Andrew G   +3 more
doaj   +1 more source

A Novel Mutation in Aspartoacylase Gene; Canavan Disease. [PDF]

Iran J Child Neurol, 2015
How to Cite This Article: Ashrafi MR, Tavasoli AR, Katibeh P, Aryani O, Vafaee-Shahi M. A Novel Mutation In Aspartoacylase Gene; Canavan Disease. Iran J Child Neurol. Autumn 2015; 9(4): 54-57.AbstractObjectiveCanavan disease (CD) is a type of vacuolating
Ashrafi M, Tavasoli A, Katibeh P, Aryani O, Vafaee-Shahi M.   +4 more
europepmc   +2 more sources

Canavan disease: Isolation and characterization of aspartoacylase.

, 1992
Canavan disease: Isolation and characterization of ...
Jose Maria. Casanova (7973579)
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Congenital spongiform leukodystrophy in 2 female littermate German shepherd puppies

Journal of Veterinary Internal Medicine
Two 9‐week‐old female littermate German Shepherd puppies showed severe high‐frequency low‐amplitude trembling that worsened with movement. The white matter (WM) of the central nervous system (CNS) showed bilateral diffuse severe spongiosis in the ...
Ricardo De Miguel, Devon Wallis Hague, Jennifer L. Johnson, Amber M. Zilinger, Anna Kukekova, Stephane Lezmi   +5 more
doaj   +1 more source

Advances and Pitfalls of Cell Therapy in Metabolic Leukodystrophies

Cell Transplantation, 2013
Leukodystrophies are a group of disorders characterized by myelin dysfunction, either at the level of myelin formation or maintenance, that affect the central nervous system (CNS) and also in some cases, to a lesser extent, the peripheral nervous system (
Catarina Oliveira Miranda, Pedro Brites, Mónica Mendes Sousa, Carla Andreia Teixeira   +3 more
doaj   +1 more source

Comprehensive Rehabilitation of a Child with Mild Clinical Course of Canavan Disease with the Emphasis on Intervention in Occupational Therapy [PDF]

, 2018
This Bachelor's thesis deals with rare Canavan disease. The aim of the thesis is to describe the disease generally as well as to show overall development of specific individual with Canavan disease focusing on rehabilitation, specifically occupational ...
Geršlová, Zdeňka
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