Results 191 to 200 of about 58,222 (243)

Limited therapeutic efficacy of N-acetyl-L-leucine in a mouse model of CLN1 disease. [PDF]

Sci Rep
Ziółkowska EA, Pagán Torres NA, Chen H, Williams LL, Eultgen EM, Nowacka A, Dearborn JT, Nelvagal HR, Whiteman IT, Platt FM, Cooper JD.   +10 more
europepmc   +1 more source

Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group. [PDF]

Orphanet J Rare Dis
AlSayed M, Al Rasadi K, AlDhaheri NS, Al-Hussaini A, Awaji A, Al Tenaiji A, Bzeizi KI, Miqdady M, Al Hashmi N, Alfadhel M.   +9 more
europepmc   +1 more source

Bioprinting neural tissue to decode Sandhoff disease: promise and barriers. [PDF]

Ann Med Surg (Lond)
Ullah SH, Waqas M, Fatima M, Talha M, Rehman UU.   +4 more
europepmc   +1 more source

Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder. [PDF]

Mol Genet Metab Rep
Sabir MS, Dobrenis K, Rha AK, Pollard L, Leoyklang P, Marrero M, Ciccone C, Hackbarth ME, Huizing M, Wang RY, Gahl WA, Platt FM, Malicdan MCV.   +12 more
europepmc   +1 more source

Glycophagy: molecular mechanisms, regulatory signals, and disease associations. [PDF]

Autophagy Rep
Chen L, Jiang J, Liu M, Chen L.
europepmc   +1 more source

Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care. [PDF]

J Inherit Metab Dis
Ain NU, Vaishnaw M, Mistry PK.
europepmc   +1 more source

Human, economic, and social impact of lysosomal storage diseases. [PDF]

Orphanet J Rare Dis
Brignani E, de Castro-López MJ, Gonzalez-Meneses A, Morales M, Pintos-Morell G, Poveda JL, Vilalta I, Cruz J, Ballester-Lozano GF, David de Paz H.   +9 more
europepmc   +1 more source

Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype. [PDF]

Am J Case Rep
Cullufi P, Velmishi V, Dervishi E, Tomori S, Hoxha G, Jazexhiu-Postoli E, Basha E, Tako AK, Tabaku M.   +8 more
europepmc   +1 more source

NPC1 trafficking via VPS41-dependent LAMP carriers regulates endosomal cholesterol homeostasis. [PDF]

Proc Natl Acad Sci U S A
Ndoj K, Tantucci M, Sanza P, Zubak K, Marodin G, Kingma J, Snijder F, Veenendaal T, Kober DL, Zelcer N, Klumperman J.   +10 more
europepmc   +1 more source