Results 111 to 120 of about 2,486,172 (179)

Exogenous estrogen partially rescues progesterone deficiency and autophagosome enlargement in <i>Mcoln1</i> ^-/- mouse model with lysosomal storage disorder. [PDF]

Reprod Dev Med
Wang Z, Li Y, Andersen CL, El Zowalaty AE, Hancock JM, Martin TE, Howerth EW, Viswanathan S, Byun H, Ye X.   +9 more
europepmc   +1 more source

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

Lysosomal Storage Disorders

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

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

Bilateral Corneal Dystrophy Revealing Mucolipidosis Type IV: A Case Report. [PDF]

Cureus
Bousellam B, Eddaoui HA, Regragui A, Benchekroun N, Belmekki M.   +4 more
europepmc   +1 more source

Autophagy-lysosomal pathway in neurodegeneration. [PDF]

Mol Neurodegener Adv
McDonough SR, Rao AK, McAleer JM, Babrowicz BM, Sharma M.   +4 more
europepmc   +1 more source

Metabolomic Insights into Lysosomal Storage Diseases: An Untargeted View. [PDF]

Metabolites
Di Carlo G, Tommolini ML, Frisco A, Spalluto G, Foley D, Zucchelli M, Cufaro MC, Cicalini I, Bucci I, Federici L, De Laurenzi V, Pieragostino D, Rossi C.   +12 more
europepmc   +1 more source