Results 61 to 70 of about 14,555 (206)

Correlation Analysis of Clinical, Imaging, and Genetic Etiologies in Pediatric Hereditary Cerebellar Atrophy: A Single‐Center Study

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We identified predictors of early onset and poor prognosis in childhood cerebellar atrophy. Our findings advocate for a shift towards early, targeted diagnostic strategies based on genetic and imaging profiles. ABSTRACT Objective To investigate the associations among clinical features, neuroimaging findings, and genetic data in children with hereditary
Luyao Jin, Shuling Chen, Ying Liu, Renyi She, Wei Jiang   +4 more
wiley   +1 more source

Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions

, 2020
Lysosomal storage disorders (LSDs) are diseases characterized by the accumulation of macromolecules in the late endocytic system and are caused by inherited defects in genes that encode mainly lysosomal enzymes or transmembrane lysosomal proteins ...
Balboa, E., Marín, T., Zanlungo, S., Klein, Andrés, Yañez, M. J., Alvarez, A.R.   +5 more
core   +2 more sources

Pharmacological Treatment of Cerebellar Ataxia in Pediatric Ataxia‐Telangiectasia: A Systematic Review

European Journal of Neurology, Volume 33, Issue 7, July 2026.
ABSTRACT Introduction Ataxia‐telangiectasia (AT) is characterized by progressive cerebellar ataxia, oculomotor apraxia, immunodeficiency, and increased cancer susceptibility. No disease‐modifying treatment is available. This systematic review aimed to evaluate the efficacy and safety of pharmacological interventions for ataxia in pediatric AT. Method A
Fabiola Panvino, Roberto Paparella, Giorgia Urciuolo, Serena Galosi, Carlotta Spagnoli, Vincenzo Leuzzi, Francesco Pisani   +6 more
wiley   +1 more source

Niemann-Pick disease type B: HRCT assessment of pulmonary involvement

Jornal Brasileiro de Pneumologia
Objective: To analyze HRCT findings in patients with Niemann-Pick disease (NPD) type B, in order to determine the frequency of HRCT patterns and their distribution in the lung parenchyma, as well as the most common clinical characteristics.
Heloisa Maria Pereira Freitas, Alexandre Dias Mançano, Rosana Souza Rodrigues, Bruno Hochhegger, Pedro Paulo Teixeira e Silva Torres, Dante Escuissato, Cesar Augusto Araujo Neto, Edson Marchiori   +7 more
doaj   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Pancytopenia With Hypocellular Bone Marrow Revealing Extrahepatic Portal Venous Obstruction and Cavernous Transformation in a Child: A Case Report of a Diagnostic Challenge

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Extrahepatic portal venous obstruction (EHPVO) is a leading cause of prehepatic portal hypertension in children, particularly in developing countries. While upper gastrointestinal bleeding is the most common presentation, EHPVO may rarely manifest predominantly with hematological abnormalities due to hypersplenism, posing a diagnostic ...
Swekchha Adhikari, Aakash Pandit, Melisha Koirala, Biplav Lamichhane, Ram Khadka, Aashish Panta, Shuvra Rimal   +6 more
wiley   +1 more source

Unique molecular signature in mucolipidosis type IV microglia

Journal of Neuroinflammation, 2019
Background Lysosomal storage diseases (LSD) are a large family of inherited disorders characterized by abnormal endolysosomal accumulation of cellular material due to catabolic enzyme and transporter deficiencies.
Antony Cougnoux, Rebecca A. Drummond, Mason Fellmeth, Fatemeh Navid, Amanda L. Collar, James Iben, Ashok B. Kulkarni, James Pickel, Raphael Schiffmann, Christopher A. Wassif, Niamh X. Cawley, Michail S. Lionakis, Forbes D. Porter   +12 more
doaj   +1 more source

Bibliometric Analysis of Cubebenes and Related Sesquiterpenes: Natural Occurrence, Biosynthesis, Pharmacological Activities, and In‐Silico‐Based Future Therapeutic Potential

eFood, Volume 7, Issue 3, June 2026.
Cubebene‐related sesquiterpenes, found across diverse biological sources, exhibit promising pharmacological activities, including anti‐inflammatory, neuroprotective, and anticancer effects. This review highlights their molecular diversity, ADME profiles, and predicted multitarget interactions, underscoring their therapeutic relevance and potential in ...
Khadija Boualam, Ahmet B. Ortaakarsu, Sohaib Khatib, Mohamed A. Farag, Mansour Sobeh   +4 more
wiley   +1 more source

Prevalence of antibodies to ganglioside and Hep 2 in Gaucher, Niemann – Pick type C and Sanfilippo diseases

Molecular Genetics and Metabolism Reports, 2019
Lysosomal Storage Diseases (LSDs) are rare genetic diseases, the majority of which are caused by specific lysosomal enzyme deficiencies and all are characterized by malfunctioning lysosomes.
Evangelia Dimitriou, Evangelia Paschali, Maria Kanariou, Helen Michelakakis   +3 more
doaj   +1 more source

Effect of Arabica Coffee Husk on Plasma Lipids and Obesity on Albino Rats

Food Science &Nutrition, Volume 14, Issue 6, June 2026.
Feeding on a high‐fat diet supplemented with Arabica coffee husks (CH) for 8 weeks led to an improvement in plasma lipids and adipose tissues in rats compared to the high‐fat diet. ABSTRACT Hyperlipidemia is a major risk factor for the development of cardiovascular diseases.
Shaheed Mohammed Alshaikhsaleh
wiley   +1 more source