Results 21 to 30 of about 15,664 (135)

Priapism associated with Niemann-Pick disease in a 15-year-old boy

Indian Journal of Urology, 2011
A 15-year-old boy presented with priapism of 46 h duration. There was no known cause of priapism detected in him. During evaluation, biopsy of the lymph node and bone marrow aspiration detected patient to be having Niemann-Pick disease.
M V Krishna Shetty, M Udaya Kumar, T K Sen   +2 more
doaj   +1 more source

The Natural Product Corramycin Acts as a DNA Gyrase Poison and Overcomes Fluoroquinolone Resistance in Mycobacterium tuberculosis

Advanced Science, EarlyView.
Corramycin, a myxobacterial natural product antibiotic, exhibits potent bactericidal activity against multidrug‐resistant Mycobacterium tuberculosis. The compound hijacks bacterial transporters such as BacA and OppABCD to enter the cell and inhibits DNA synthesis through a previously unrecognized mode of DNA gyrase poisoning, locking the enzyme in an ...
Franziska Fries, Jennifer Herrmann, Michael Dal Molin, Yaëlle Wormser, Timo Risch, Yunsheng Gao, Gareth Prosser, Francesca Gubellini, Ariel Mechaly, Joshua B. Wallach, Anthony Castro, Arka Banerjee, Sari Rasheed, Alexander Horn, Mathias Müsken, Michael Kurz, Lindsay Sonnenkalb, Viola Dreyer, Stefan Niemann, Sönke Andres, Dirk Schnappinger, Uli Kazmaier, Norbert Reiling, Rolf Müller, Jan Rybniker, Stéphanie Petrella   +25 more
wiley   +1 more source

Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency

Orphanet Journal of Rare Diseases
Background Acid Sphingomyelinase Deficiency (ASMD) is an ultra-rare autosomal recessive lysosomal storage disorder characterized by intracellular lipid accumulation resulting from reduced function of acid sphingomyelinase.
Eva M. Raebel, Samantha Wiseman, Conan Donnelly, Toni Mathieson, Jackson Pountney, Joslyn Crowe, Justin Hopkin   +6 more
doaj   +1 more source

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)

Orphanet Journal of Rare Diseases, 2023
Background Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care.
Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake, Shaun Christopher Bolton, Andrea Dardis, Anna Lehman, Olivier Lidove, Charlotte Dawson, Roberto Giugliani, Jackie Imrie, Justin Hopkin, James Green, Daniel de Vicente Corbeira, Shyam Madathil, Eugen Mengel, Fatih Ezgü, Magali Pettazzoni, Barbara Sjouke, Carla Hollak, Marie T. Vanier, Margaret McGovern, Edward Schuchman   +21 more
doaj   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

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

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

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

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  

A multiplex interactome of Ebola virus proteins reveals TM9SF2 as a cell‐surface attachment factor that promotes viral entry

iMetaOmics, EarlyView.
This study generates a comprehensive Ebola virus (EBOV)‐human protein–protein interactome, comprising 1728 core high‐confidence interactions. Further interactome analysis revealed the potential association of EBOV glycoprotein (GP) with the host factor TM9SF2. Subsequent mechanistic investigations confirmed that TM9SF2 functions as an attachment factor
Limin Shang, Shouwen Du, Yuchen Liu, Letian Li, Xi Wu, Yanzhi Yuan, Chaozhi Jin, Qingkun Mi, Yuhang Wang, Xiaoshuang Shi, Jiamin Wang, Guoqing Zhang, Yidan Ma, Weijin Huang, Jigang Wang, Jian Wang, Chang Li   +16 more
wiley   +1 more source