Results 31 to 40 of about 5,268,641 (220)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Preinatal Types of Niemann-Pick disease type C [PDF]

, 2015
How to Cite This Article:Alaei MR. Preinatal Types of Niemann-Pick disease type C. Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 12.Pls see Pdf.
ALAEI, Mohammad Reza
core   +1 more source

Current advancements in therapy for Niemann-Pick disease: progress and pitfalls

, 2023
INTRODUCTION Niemann-Pick disease type C (NPC) is a rare, autosomal recessive, lysosomal storage disorder. To combat the progressive neurodegeneration in NPC, disease-modifying treatment needs to be introduced early in the course of the disease.
Tatiana Bremova-Ertl, Schneider, Susanne, Susanne Schneider, Bremova-Ertl, Tatiana   +3 more
core   +1 more source

Altered gene expression in the liver and small intestine of horses with equine neuroaxonal dystrophy

Equine Veterinary Journal, EarlyView.
Abstract Background Equine neuroaxonal dystrophy/degenerative myeloencephalopathy (eNAD/EDM) is the second most common diagnosis of spinal ataxia in horses in the United States. The disease develops due to a combination of vitamin E deficiency and an unknown genetic risk factor(s), and there currently is no effective treatment.
Stephanie Ryan, Blythe Durbin‐Johnson, Kevin Woolard, Andrew D. Miller, Carrie J. Finno   +4 more
wiley   +1 more source

A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem

Orphanet Journal of Rare Diseases
People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many healthcare professionals being unfamiliar with these diseases.
T. L. Klein, J. Bender, S. Bolton, T. Collin-Histed, A. Daher, L. De Baere, D. Dong, J. Hopkin, J. Johnson, T. Lai, M. Pavlou, T. Schaller, I. Žnidar   +12 more
doaj   +1 more source

Climate Justice in Sub‐Saharan Africa: Unequal Burdens and Pathways to Socially Just Adaptation

Sustainable Development, EarlyView.
ABSTRACT Climate change in Sub‐Saharan Africa is often framed through vulnerability, resilience, and adaptation, yet these concepts alone do not fully explain the unequal social, economic, and political conditions shaping climate harm. This review examines climate change through a climate justice lens, focusing on unequal burdens, household welfare ...
Jacob Kwakye, Abraham Kwao
wiley   +1 more source

Yeast Knockout Strain Collection: Driving Functional Genomics, Biotechnological Applications and Human Disease Research

Yeast, EarlyView.
ABSTRACT The knockout strain collection of Saccharomyces cerevisiae has served as a valuable resource for functional genomics and yeast‐based biotechnology studies. A comprehensive single‐gene knockout strain collection, covering nearly all non‐essential genes, together with complementary mutant collections for essential genes, including temperature ...
Takashi Hirasawa
wiley   +1 more source

Niemann-pick disease type A-a case report [PDF]

, 2017
Niemann-Pick Disease is an autosomal recessive disorder of infancy, characterized by failure to thrive, hepatosplenomegaly and neurodegenerative changes. It is caused by inherited deficiency of an enzyme, acid sphingomyelinase.
Tangde, Ashwini, Pore, Shubhajyoti, Joshi, Anil, Anil Joshi, Ashwini Tangde, Bindu, Rajan, Rajan Bindu, Shubhajyoti Pore, Anjali Kulkarni, Kulkarni, Anjali   +9 more
core   +1 more source

Niemann Peak Disease Type A in Necropsy of the Liver of a Four-Month-Old Female with Fe-ver and Pancytopenia

Iranian South Medical Journal, 2021
Niemann-pick disease is a severe disorder in sphingolipid metabolism and esterification of cholesterol which results in accumulations of sphingomyelin in different tissues.
Amer Yazdanparast, Gholamreza Fathpour, Parvin Jalali   +2 more
doaj  

Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report

Journal of Medical Case Reports, 2012
Introduction Niemann-Pick disease type C is a rare genetic lysosomal storage disease associated with impaired intracellular lipid trafficking and a range of progressive neurological manifestations.
Skorpen Johannes, Helland Ingrid B, Tennøe Bjørn   +2 more
doaj   +1 more source