Results 141 to 150 of about 2,842 (215)

Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of <i>Drosophila melanogaster</i> During Aging. [PDF]

Cells
Markaki SP, Kiose NM, Charitopoulou ZA, Kougioumtzoglou S, Velentzas AD, Stravopodis DJ.   +5 more
europepmc   +1 more source

Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study. [PDF]

Diagnostics (Basel)
Yazıcı H, Kara E, Bulut FD, Çelik MY, Köşeci B, Erdem F, Burgaç E, Yanbolu AY, Kaplan İ, Durmaz A, Aykut A, Canda E, Kor D, Uçar SK, Sözmen E, Çoker M, Mungan HNÖ.   +16 more
europepmc   +1 more source

Molecular genetics of Hunter syndrome: Mutation characterization, carrier detection, and parental origin of mutation. [PDF]

, 2000
Bellows, Amy Bennett
core   +1 more source

<i>In vivo</i> CRISPR/Cas9-mediated gene integration corrects mucopolysaccharidosis type II in mice. [PDF]

Genes Dis
Yu H, Qin Q, Cui S, Wa Y, Dong K, Ji W, Jia X, Fu S, Wu J, Sun W.   +9 more
europepmc   +1 more source

Editorial: Endo- and transcytotic pathways at the brain barriers. [PDF]

Front Drug Deliv
Erickson MA, Nielsen MS.
europepmc   +1 more source

Nebulized and intravenous enzyme replacement therapy in mice with mucopolysaccharidosis type II. [PDF]

PLoS One
Shamoun AJ, Reis G, Ashley M, Labilloy A, Ferreira LF.   +4 more
europepmc   +1 more source

Osteopathia striata with cranial sclerosis, associated with juvenile idiopathic arthritis: A case report and review of literature. [PDF]

World J Orthop
Yakovlev AA, Gaidar EV, Suspitsin EN, Korzun PR, Kostik MM.   +4 more
europepmc   +1 more source

Lentiviral Gene Therapy for Mucopolysaccharidosis II with Tagged Iduronate 2-Sulfatase Prevents Life-Threatening Pathology in Peripheral Tissues But Fails to Correct Cartilage. [PDF]

Hum Gene Ther
Catalano F, Vlaar EC, Dammou Z, Katsavelis D, Huizer TF, Zundo G, Hoogeveen-Westerveld M, Oussoren E, van den Hout HJMP, Schaaf G, Pike-Overzet K, Staal FJT, van der Ploeg AT, Pijnappel WWMP.   +13 more
europepmc   +1 more source

Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey. [PDF]

Orphanet J Rare Dis
Muenzer J, Amartino H, Giugliani R, Harmatz P, Lin SP, Link B, Molter D, Ramaswami U, Scarpa M, Botha J, Audi J, Burton BK.   +11 more
europepmc   +1 more source

Advances in mucopolysaccharidosis research: the impact of mass spectrometry-based approaches. [PDF]

Clin Proteomics
Ramarajan MG, Garapati K, Ghose V, Pandey A.   +3 more
europepmc   +1 more source