Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling
Journal of Lipid Research, 2013 Niemann-Pick type C (NPC)1 is a rare neurodegenerative disease for which treatment options are limited. A major barrier to development of effective treatments has been the lack of validated biomarkers to monitor disease progression or serve as outcome ...
Martin Fan +12 more
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Guttate leukoderma and acrokeratosis verruciformis of Hopf: a rare combination in Darier disease [PDF]
, 2020 A distinct Darier phenotype presenting with confetti-like hypopigmented macules was first described in 1965. Designated as "guttate leukoderma," this skin finding is a rarely-reported presentation of Darier disease.
Grossman, Shoshana K +4 more
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BMC Medical Genetics, 2017 Background Niemann-Pick type C disease (NPC) is an autosomal recessive, neurovisceral, lysosomal storage disorder with protean and progressive clinical manifestations, resulting from mutations in either of the two genes, NPC1 (~95% of families) and NPC2.
Evangelia Bountouvi +6 more
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Diels-alder cycloaddition in the synthesis of 1-azafagomine, analogs, and derivatives as glycosidase inhibitors [PDF]
, 2012 This comprehensive review deals with the synthesis of 1-azafagomine, analogs, and derivatives having the Diels-Alder cycloaddition as the key step. Most of the compounds referred are racemic or have been resolved by lipase transesterification.
Alves, M. José +3 more
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Orphanet Journal of Rare Diseases, 2012 Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological deterioration and premature death, and has an estimated birth incidence of 1:120,000.
Walterfang Mark +5 more
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A clinical case of adult onset Niemann–Pick disease type C
Неврология, нейропсихиатрия, психосоматика, 2016 The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage disease. It highlights the main clinical manifestations and classification of the disease.
E. V. Saifullina +6 more
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Análisis de interacciones de letalidad sintética (SL) en cáncer y predicción de tratamientos [PDF]
, 2018 Trabajo fin de máster en Bioinformática y Biología ComputacionalEl tratamiento de tumores de forma dirigida todavía supone un desafío en la investigación contra el cáncer.
Fustero Torre, Coral
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Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann–Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report [PDF]
, 2016 core +1 more source
Journal of Comparative Effectiveness ResearchAim: Late-onset Pompe disease is characterized by progressive loss of muscular and respiratory function. Until recently, standard of care was enzyme replacement therapy (ERT) with alglucosidase alfa.
Simon Shohet +9 more
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Fabryjeva bolest - smjernice za dijagnozu i liječenje odraslih bolesnika [Fabry disease - guidelines for diagnosis and management of adult patients] [PDF]
, 2014 Early diagnosis and management of patients with Fabry disease (FD) requires a multidisciplinary approach of several different experts. The aim of this document is to provide health care professionals with guidelines for management of adult patients with ...
Merkler, Marijan +5 more
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