A case of Niemann – Pick disease type C
Неврология, нейропсихиатрия, психосоматика, 2013 The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases.
Sergei Anatolyevich Klyushnikov +2 more
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Prenatal Diagnosis and Genetic Counseling for Niemann-Pick C Disease [PDF]
, 2015 How to Cite this Article: Javadzadeh M. Prenatal Diagnosis and Genetic Counseling for Niemann-Pick C Disease. Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 22. Pls see pdf.
JAVADZADEH, Mohsen
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A Case with Niemann-Pick Disease and Concomitant Kartagener’s SyndromeKartagener Sendromu’nun Eşlik Ettiği Bir Niemann-Pick Olgusu [PDF]
, 2013 Case ReportA Case with Niemann-Pick Disease and Concomitant Kartagener’s SyndromeMuzaffer Keklik 1 , Serdar Şıvgın 1 , Süleyman Baldane 2 , Afra Yıldırım 3 , Olgun Kontaş ...
Çetin, Mustafa, Keklik, Muzaffer
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Bidirectional links between Alzheimer's disease and Niemann-Pick type C disease [PDF]
, 2014 Alzheimer's disease (AD) and Niemann-Pick type C (NPC) disease are progressive neurodegenerative diseases with very different epidemiology and etiology.
Malnar, Martina +3 more
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Doença de Niemann Pick tipo B: relato de caso [PDF]
Introduction: Niemann-Pick Disease (NPD) is a rare genetic condition, an autosomal recessive disorder, that can be identified by the acid sphingomyelinase deficiency, which leads to the buildup of sphingomyelin on lysosomes.
Amoedo, Bianca Gomes Estevez
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Echogenic splenic lesions in a child with type B Niemann–Pick disease [PDF]
, 2013 We report the case of a 15-year-old boy with Niemann-Pick disease type B with characteristic sonographic findings of splenic involvement. There were multiple well-defined echogenic nodular lesions within the spleen parenchyma, and these lesions were ...
Mehmet Emin Adin +5 more
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Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate
Molecular Genetics and Metabolism Reports, 2015 Short-chain C6-sphingomyelin is an artificial substrate that was used in an acid sphingomyelinase activity assay for a pilot screening study of patients with Niemann–Pick disease types A and B.
Wei-Lien Chuang +9 more
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Eye Movements in Niemann Pick C Disease [PDF]
, 2008 Many neurodegenerative diseases have characteristic eye movement abnormalities, including Niemann Pick C, Gaucher disease type 3, and PSP Since eye movements are easily quantifiable, could they serve as a measure of disease progression and help to ...
Edmond FitzGibbon
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Evidence of polyglandular involvement in Niemann-Pick disease type B [PDF]
, 1987 We report a girl with Niemann-Pick disease type B in whom short stature was recorded over a long period.
MARIANO A +6 more
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Hepatic and Pulmonary Involvement in an Adult Female Affected by Type B Niemann-Pick Disease
Eurasian Journal of Medicine, 2019 We report a case of type B Niemann-Pick disease in a 39-year-old female patient. She presented with hepatomegaly, splenomegaly and moderate mental retardation without other signs or symptoms.
Fatih Albayrak +6 more
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