Results 51 to 60 of about 2,165 (162)

Human induced pluripotent stem cell line (SDQLCHi064-A) derived from a patient with Canavan disease carrying c.556_559dup GTTC and c.919delA mutations in the ASPA gene

Stem Cell Research
Canavan disease (CD, OMIM# 271900) is an autosomal recessive neurodegenerative disorder caused by homozygous or compound heterozygous mutations in ASPA gene, which result in catalytic deficiency of the aspartoacylase enzyme and the accumulation of N ...
Ning Liu, Yongsheng Ge, Yanan Yang, Fen Zhao, Yuqiang Lv, Zilong Li, Rui Dong, Yi Liu, Zhongtao Gai   +8 more
doaj   +1 more source

The Economics of Liver Fibrosis Diagnosis: Systematic Review of Non‐Invasive Test Cost‐Effectiveness

Liver International Communications, Volume 6, Issue 4, December 2025.
ABSTRACT Hepatic diseases progress silently, leading to fibrosis, cirrhosis, and hepatocellular carcinoma. Although liver biopsy remains the gold standard for fibrosis assessment, it is limited by invasiveness and sampling variability. Non‐invasive liver tests (NILTs) can mitigate biopsy‐related risks.
Marilia Mastrocolla de Almeida Cardoso, Fernando Gomes Romeiro, Wendel Mombaque dos Santos, Juliana Machado‐Rugolo, Juliana Tereza Coneglian de Almeida, Lehana Thabane, Kednapa Thavorn, Jean‐Eric Tarride   +7 more
wiley   +1 more source

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Medical Sciences
Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific, and thus, imaging techniques like MRI can be used for a more definitive diagnosis.
Rajvi N. Thakkar, Drashti Patel, Ivelina P. Kioutchoukova, Raja Al-Bahou, Pranith Reddy, Devon T. Foster, Brandon Lucke-Wold   +6 more
doaj   +1 more source

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

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

Status Dystonicus in Children: Is it more Common than we Realize?

Movement Disorders Clinical Practice, Volume 12, Issue 10, Page 1629-1634, October 2025.
Abstract Background Status dystonicus (SD) is the most severe form of dystonia, affecting predominantly children. SD is thought to be rare, but the incidence is unknown. Objective We aimed to: (1) assess the number of admissions involving SD (2) describe complications/intensive care unit (ICU) transfers, and (3) evaluate whether these changed with ...
Nadia Al Azri, Lindsey M. Vogt, Andrea LeBlanc‐Millar, Sara Breitbart, Alfonso Fasano, George M. Ibrahim, Carolina Gorodetsky   +6 more
wiley   +1 more source

Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study

Annals of the Child Neurology Society, Volume 3, Issue 3, Page 176-187, September 2025.
ABSTRACT Importance Leukodystrophies are a diverse group of rare disorders that disrupt central myelination. These disorders present with a broad spectrum of neurological severity and are associated with a range of potential secondary complications, such as scoliosis and failure of independent feeding.
Emma R. Kotes, Sarah Woidill, Russell D'Aiello, Amina Khan, Jacob McCann, Mark Ramos, Francesco Gavazzi, Stephanie Keller, Keith Van Haren, Ali Fatemi, Florian Eichler, Joshua Bonkowsky, Jamie Fraser, Lisa Emrick, Omar Sherbini, Ashley Hackett, Jeilo Gauna, Dandre Amos, Jordan Goodman, Amena Smith Fine, Amanda Nagy, Seungil Lee, Nicole Page, Johanna Schmidt, Amy Pizzino, Kayla Muirhead, Mariko Bennett, Amy Waldman, Justine Shults, Laura Adang, Robert Grundmeier, Adeline Vanderver   +31 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

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