Results 101 to 110 of about 21,027 (214)
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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Developing novel screening assays and therapeutics for Niemann-Pick disease [PDF]
In this thesis, screening assays, and compounds with potential therapeutic effects were developed and analysed for use in Niemann-Pick disease.
Fenn, Gareth
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Prenatal Diagnosis and Genetic Counseling for Niemann-Pick C Disease
, 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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, 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
, 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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Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient
Вопросы современной педиатрииBackground. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and
Nataliya V. Zhurkova +7 more
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Echogenic splenic lesions in a child with type B Niemann–Pick disease
, 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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Eye Movements in Niemann Pick C Disease
, 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
, 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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