Results 221 to 230 of about 8,108 (242)

The lysosomal storage disease continuum with ageing-related neurodegenerative disease

Ageing Research Reviews, 2016
Emyr Lloyd-Evans
exaly  

Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease

European Journal of Pediatrics, 1997
E Kattner, Klaus Harzer, Harzer K
exaly  

Lysosomal Storage Diseases

2012
Pinar T. Ozand, Mohammed Al-Essa
  +4 more sources

[Lysosomal storage diseases].

Zeitschrift fur Rheumatologie, 2011
Lysosomal storage diseases are a heterogeneous group of disorders caused by lysosomal enzyme dysfunction. Individually they are very rare, but this group as a whole has a prevalence of more than 1:8,000 live births. While severe phenotypes are easily diagnosed this can be a real challenge with attenuated forms.
openaire   +1 more source

Impairment of chaperone‐mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis

EMBO Molecular Medicine, 2015
Gennaro Napolitano, Jennifer L Johnson, Jing He   +2 more
exaly  

Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression

Journal of Clinical Medicine, 2020
Poulomee Bose, Alexey V Pshezhetsky
exaly  

Early Onset of Lysosomal Storage Disease in a Murine Model of Mucopolysaccharidosis Type VII: Undegraded Substrate Accumulates in Many Tissues in the Fetus and Very Young MPS VII Mouse

Pediatric and Developmental Pathology, 2005
Beth Levy, Nancy Galvin, Mark D Lessard   +2 more
exaly  

Lysosomal storage and advanced senescence in the brain of LAMP-2-deficient Danon disease

Acta Neuropathologica, 2012
Akiko Furuta, Jōji Haratake, Tomohiro Kabuta   +2 more
exaly  

Genetic Convergence of Parkinson’s Disease and Lysosomal Storage Disorders

Molecular Neurobiology, 2014
, Joseph Janković, Janković Joseph
exaly  

Lysosomal storage disorders affecting the heart: a review

Cardiovascular Pathology, 2019
Vidhya Nair, John P Veinot
exaly