Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses
R Kohan, IA Cismondi… - Current …, 2011 - ingentaconnect.com
The Neuronal Ceroid Lipofuscinoses (NCLs) are lysosomal storage diseases (LSDs)
affecting the central nervous system (CNS), with generally with recessive inheritance. They …
affecting the central nervous system (CNS), with generally with recessive inheritance. They …
Correlation among genotype, phenotype, and histology in neuronal ceroid lipofuscinoses: an individual patient data meta-analysis
Background Neuronal ceroid lipofuscinoses (NCL) are heterogeneous neurodegenerative
disorders. A better understanding of genotype–phenotype–histology correlation is expected …
disorders. A better understanding of genotype–phenotype–histology correlation is expected …
Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl–protein thioesterase reduces visceral lysosomal storage and modestly prolongs …
J Hu, JY Lu, AMS Wong, LS Hynan… - Molecular genetics and …, 2012 - Elsevier
PPT1-related neuronal ceroid lipofuscinosis (NCL) is a lysosomal storage disorder caused
by deficiency in a soluble lysosomal enzyme, palmitoyl-protein thioesterase-1 (PPT1) …
by deficiency in a soluble lysosomal enzyme, palmitoyl-protein thioesterase-1 (PPT1) …
Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy
A Ługowska, JK Purzycka-Olewiecka, R Płoski… - Life, 2021 - mdpi.com
We report on a 36-year-old man with cerebellar-extrapyramidal syndrome and severe heart
failure because of dilated cardiomyopathy of unknown origin. Dysarthria and cardiac …
failure because of dilated cardiomyopathy of unknown origin. Dysarthria and cardiac …
Remodeling of mitochondrial interior in cardiac lipofuscinosis
A Fidziańska, E Walczak, M Szwoch - Ultrastructural Pathology, 2013 - Taylor & Francis
Ultrastructural analysis was performed in cardiac ceroidlipofuscinosis to confirm the
presence and the nature of storage material. Granular osmophilic deposits characteristic of …
presence and the nature of storage material. Granular osmophilic deposits characteristic of …
Appendix 2: useful information
SE Mole, RE Williams - The Neuronal Ceroid Lipofuscinoses …, 2011 - books.google.com
There are many groups around the world with an interest in the NCLs. These often have a
national focus and may support families or raise the profile of Batten disease or raise money …
national focus and may support families or raise the profile of Batten disease or raise money …
Die CLN3-Krankheit: Quantifizierte Beschreibung des klinischen Verlaufs bei molekulargenetisch definierten Patienten, unter besonderer Berücksichtigung …
P Moll-Khosrawi - 2017 - ediss.sub.uni-hamburg.de
Der klinische Verlauf der CLN3-Krankheit, einer im Jugendalter relativ häufigen, mit
Erblindung und Demenz einhergehenden Speicherkrankheit aus der Gruppe der …
Erblindung und Demenz einhergehenden Speicherkrankheit aus der Gruppe der …
Cardiac involvement in neuronal ceroid lipofuscinosis
M Szwoch, D Wojtowicz, K Dorniak… - Polish Heart …, 2013 - journals.viamedica.pl
Zajęcie serca w przebiegu neuronalnej lipofuscynozy ceroidowej Page 1 www.kardiologiapolska.pl
Kardiologia Polska 2013; 71, 8: 855–857; DOI: 10.5603/KP.2013.0200 ISSN 0022–9032 OPIS …
Kardiologia Polska 2013; 71, 8: 855–857; DOI: 10.5603/KP.2013.0200 ISSN 0022–9032 OPIS …
[PDF][PDF] Zajęcie serca w przebiegu neuronalnej lipofuscynozy ceroidowej
M Szwoch, D Wojtowicz, K Dorniak, E Walczak… - Kardiol Pol, 2013 - ppm.gumed.edu.pl
Polska Platforma Medyczna Polish Platform of Medical Research https://ppm.edu.pl
Repozytorium Gdańskiego Uniwersytetu Medyczneg Page 1 Polska Platforma Medyczna …
Repozytorium Gdańskiego Uniwersytetu Medyczneg Page 1 Polska Platforma Medyczna …
가족성저칼륨성주기성마비환자의골격근세포내Kir6. 2 의발현및분포양상
SJ Kim, DH Yoon, JB Kim - 생명과학회지, 2010 - dbpia.co.kr
가족성 저칼륨성 주기성마비는 간헐적으로 발생하는 저칼륨혈증을 동반한 가역적 이완성
근육마비를 특징으로 하는 상염색체 우성 유전질환이다. 골격근 세포막에 위치한 …
근육마비를 특징으로 하는 상염색체 우성 유전질환이다. 골격근 세포막에 위치한 …