Results 111 to 120 of about 2,604,703 (185)

Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder - aspartylglucosaminuria. [PDF]

FEBS Lett, 2018
Pande S, Bizilj W, Guo HC.
europepmc   +1 more source

Development and Evaluation of Different Electrospun Cysteamine-Loaded Nanofibrous Webs: A Promising Option for Treating a Rare Lysosomal Storage Disorder. [PDF]

Pharmaceutics
Omer S, Nagy N, Pinke B, Mészáros L, Kazsoki A, Zelkó R.   +5 more
europepmc   +1 more source

Association of luteal cell degeneration and progesterone deficiency with lysosomal storage disorder mucolipidosis type IV in Mcoln1-/- mouse model†. [PDF]

Biol Reprod, 2019
Wang Z, El Zowalaty AE, Li Y, Andersen CL, Ye X.   +4 more
europepmc   +1 more source

Skeletal and Brain Abnormalities in Fucosidosis, a Rare Lysosomal Storage Disorder. [PDF]

J Radiol Case Rep, 2015
Malatt C, Koning JL, Naheedy J.
europepmc   +1 more source

Lysosomal Storage Disorders

, 2019
Daniel Bell, Sepehr Haghighi, Tristan Skalina   +2 more
openaire   +2 more sources

The Lysosomal Clock: Are We Only as Old as Our Lysosomes? [PDF]

Traffic
Vegas AD, Galli T.
europepmc   +1 more source

A novel transgenic mouse model of lysosomal storage disorder.

Am J Physiol Gastrointest Liver Physiol, 2016
Ortiz-Miranda S, Ji R, Jurczyk A, Aryee KE, Mo S, Fletcher T, Shaffer SA, Greiner DL, Bortell R, Gregg RG, Cheng A, Hennings LJ, Rittenhouse AR.   +12 more
europepmc   +1 more source

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders. [PDF]

J Inherit Metab Dis
McCarron EP, Blau N, Eden ER, Platt FM, Aerts JM, Jones SA, Ferreira CR, Stepien KM.   +7 more
europepmc   +1 more source

Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf-Hirschhorn Syndrome: Diagnostic Overshadowing. [PDF]

JIMD Rep
Cifuentes-Uribe K, Girard S, Froissart R, Pettazzoni M, Guffon N.   +4 more
europepmc   +1 more source