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Scholar Results 1 - 7 of 7 citing Collins: Batten disease: features to facilitate early diagnosis. (0.07 sec) 

人类 Batten 病基因 CLN3 及其突变的生物信息学分析


陈平, 张高川, 王文兵, 李新平, 朱江 - 苏州大学学报: 自然科学版, 2008 - cqvip.com
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Ocular manifestation of storage diseases


J Biswas, K Nandi, S Sridharan, P Ranjan - Current Opinion in Ophthalmology, 2008 - journals.lww.com
Introduction Lysosomal storage diseases (LSDs) are a rare form of metabolic
disorder, which can involve virtually any organ of the body. Ocular involvement
is even rare as compared to systemic involvement in such diseases and poses ...
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Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) and the Eye


S Bozorg, D Ramirez-Montealegre, M Chung, … - Survey of Ophthalmology, 2009 - Elsevier
Juvenile neuronal ceroid lipofuscinoses, or Batten disease, is the most common
type of NCL in the United States and Europe. This devastating disorder presents
with vision failure and progresses to include seizures, motor dysfunction, ...
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Autofluorescence and Infrared Retinal Imaging in patients and obligate carriers with …


JP Kelly, AH Weiss, G Rowell, GM Seigel - Ophthalmic Genetics, 2009 - informahealthcare.com
Results: For NCL subjects, FAF images were successfully obtained in 16 eyes (9
of 27 subjects). Of these, 11 eyes had severely reduced or extinguished FAF and
5 eyes (3 subjects) could be analyzed along the meridians. An NCL subject ...
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Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies


AL Getty, PG Rothberg, DA Pearce - Expert Opin. Med. Diagn., 2007 - informahealthcare.com
The neuronal ceroid lipofuscinoses (NCL) are a group of rare genetically
inherited neurodegenerative disorders in children. These diseases are classified
by age of onset (congenital, infantile, late-infantile, juvenile and ...
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[PDF] Haben Sie auch schon mal eine Neuronale Ceroid-Lipofuszinose „übersehen “?


L Forschung, F Stehr - ncl-stiftung.de
Die Neuronalen Ceroid-Lipofuszinosen (NCL) stellen die häufigsten neurodege-
nerativen Erkrankungen des Kindesalters dar. Dennoch kommt es immer noch zu
Fehldiagnosen, wie z. B. Retinitis pigmentosa. Für den Augenarzt, der ...
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[PDF] LIPOFUSCINOSE CERÓIDE NEURONAL JUVENIL Da teoria à prática clínica: Estudo de dois …


AFMR Matas, JJSA Correia - fcsaude.ubi.pt
Page 1. Universidade da Beira Interior Faculdade de Ciências da Saúde LIPOFUSCINOSE
CERÓIDE NEURONAL JUVENIL Da teoria à prática clínica: ...
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