Results 21 to 30 of about 14,555 (206)

Genetic disease and Niemann-Pick disorders: novel treatments and drug delivery systems

, 2023
A large number of diseases result from mutation or alteration in the structure and function of genes. Niemann-Pick disease is a very rare autosomal recessive lysosomal storage disorder.
Dua, K, Lawson, J, Pondugula, S, Pathak, S, Harrell, E, Deruiter, J, Dhanasekaran, M   +6 more
core   +1 more source

Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis. [PDF]

Iran J Child Neurol, 2019
Objectives: Niemann-Pick diseases (NPD) is an autosomal recessive inherited lysosomal lipid storage disorder which occurs due to a defect in cellular cholesterol trafficking, leading to excess lipid accumulation in multiple organ systems such as the ...
Hashemian S, Eshraghi P, Dilaver N, Galehdari H, Shalbafan B, Vakili R, Ghaemi N, Ahangari N, Rezazadeh Varaghchi J, Zeighami J, Sedaghat A, Aminzadeh M, Hamid M, Saberi A, Ashtari F, Ghayoor Karimiani E, Shariati G.   +16 more
europepmc   +2 more sources

Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases [PDF]

The Ukrainian Biochemical Journal, 2016
To date, several genetic variants that lead to a deficiency of chitotriosidase activity have been described. The duplication of 24 bp (dup24bp) in exon 10 of the CHIT1 gene, which causes a complete loss of enzymatic activity of the gene product, is the ...
N. V. Olkhovych
doaj   +1 more source

Mechanisms of Dysmyelination in Niemann-Pick Type C Disease

, 2023
Lysosomal storage diseases (LSDs) are a group of over 70 inherited disorders that result in lysosomal dysfunction and accumulation of substrates. This lysosomal impairment leads to a variety of secondary effects within the cell including impaired ...
Kunkel, Thaddeus
core   +1 more source

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

Journal of Pediatric Research, 2018
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu   +4 more
doaj   +1 more source

The role of inborn errors of metabolism in the etiology of neonatal cholestasis: A single center experience

Trends in Pediatrics, 2023
Objective: The evaluation of patients with neonatal cholestasis is difficult due to the variety of cholestatic syndromes and non-specific clinical findings. It is important to recognize treatable diseases promptly.
Ayse Ergül Bozacı, Fatma Demirbaş Ar, AYSEL Tekmenuray Ünal, İbrahim Taş, Hüseyin Bilgin   +4 more
doaj   +1 more source

Murine Models of Lysosomal Storage Diseases Exhibit Differences in Brain Protein Aggregation and Neuroinflammation

Biomedicines, 2021
Genetic, epidemiological and experimental evidence implicate lysosomal dysfunction in Parkinson’s disease (PD) and related synucleinopathies. Investigate several mouse models of lysosomal storage diseases (LSDs) and evaluate pathologies reminiscent of ...
Jennifer Clarke, Can Kayatekin, Catherine Viel, Lamya Shihabuddin, Sergio Pablo Sardi   +4 more
doaj   +1 more source

Exacerbating and reversing lysosomal storage diseases: from yeast to humans

Microbial Cell, 2017
Lysosomal storage diseases (LSDs) arise from monogenic deficiencies in lysosomal proteins and pathways and are characterized by a tissue-wide accumulation of a vast variety of macromolecules, normally specific to each genetic lesion.
Tamayanthi Rajakumar, Andrew B. Munkacsi, Stephen L. Sturley   +2 more
doaj   +1 more source

The coexistence of two rare diseases thought to use the same pathologic pathway: cystic fibrosis and Niemann-Pick disease

The Turkish Journal of Pediatrics, 2022
Background. Cystic fibrosis (CF) is a multisystemic, autosomal recessive disease, which is caused by a mutation in the transmembrane conduction regulator protein (CFTR) gene.
Aslı İmran Yılmaz, Betül Uğurlu, Gökçen Ünal, Hüseyin Tokgöz, Sevgi Pekcan   +4 more
doaj   +1 more source

Niemann-Pick disease and hemophagocytic syndrome

, 2012
Hemophagocytic syndromes represent a severe hyperinflammatory condition with the cardinal symptoms of prolonged fever, cytopenias, hepatosplenomegaly and hemophagocytosis induced by activated, morphologically benign macrophages.
KENDİRCİ, Mustafa, TORUN, Yasemin Altuner, CANPOLAT, Mehmet, Ozdemir, Mehmet Akif, ASLAN, DURAN   +4 more
core   +1 more source