Results 171 to 180 of about 58,222 (243)

Intracellular Delivery of β-Galactosidase Enzyme Using Arginase-Responsive Dextran Sulfate/Poly-l-arginine Capsule for Lysosomal Storage Disorder. [PDF]

ACS Omega, 2017
Gupta M, Pandey H, Sivakumar S.
europepmc   +1 more source

Enteric nervous system disease in neuronopathic lysosomal storage disorders

Ewa Ziółkowska, Robert O. Heuckeroth, Jonathan D. Cooper   +2 more
openalex   +1 more source

GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency. [PDF]

J Inherit Metab Dis
Damiano C, Tarallo A, Gragnaniello V, Strollo S, Fecarotta S, Tuzzi MR, Polishchuk E, Montefusco S, Valanzano A, Assunto A, Minopoli N, Casa RD, Polishchuk R, Groen SLMI', Medina DL, Bertini E, Carrozzo R, Emmerich J, Schoser B, Pijnappel WWMP, Parenti G.   +20 more
europepmc   +1 more source

Easy method for newborn screening of six lysosomal storage disorders using online solid-phase extraction with mass spectrometry / Altı lizozomal depo hastağının yenidoğan taramasında, online katı faz eksraksiyon kullanılarak kütle spektrometresi ile ölçümünde kolay bir metod

, 2016
Muhittin A. Serdar, İncilay Lay, Julide Coşkun, Berna Aslan, Hüseyi̇n Aslan, Abdurrahman Coşkun, Mustafa Serteser, İbrahim Ünsal, Aysel Özpınar   +8 more
openalex   +1 more source

Correction: Neurologic Abnormalities in Mouse Models of the Lysosomal Storage Disorders Mucolipidosis II and Mucolipidosis III γ

, 2014
The PLOS ONE Staff
openalex   +2 more sources

Canine Neuronal Ceroid Lipofuscinosis-like Disorder Associated with Sequence Variants in <i>AP3B1</i> and <i>TRAPPC9</i>. [PDF]

Genes (Basel)
Then A, Welly R, Bullock G, Chevallier L, Katz ML.   +4 more
europepmc   +1 more source

Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism [PDF]

Marya S. Sabir, Vukasin M. Jovanovic, Seungmi Ryu, Chaitali Sen, Pinar Ormanoglu, Laura Pollard, Richard Steet, William A. Gahl, Marjan Huizing, Carlos A. Tristan, Frances M. Platt, May Christine V. Malicdan   +11 more
openalex   +1 more source

NDPACX: a newly defined X-linked Parkinsonian syndrome associated with <i>SLC9A6</i> hemizygote mutation. [PDF]

Brain Commun
Okochi R, Nihei Y, Ito D.
europepmc   +1 more source

Genomic autopsy in neonatal-onset mucopolysaccharidosis type VII: Key for diagnosis and future planning. [PDF]

Pediatr Int
Okuno T, Ikawa M, Yuasa M, Muramoto A, Fu L, Matsumoto N, Watanabe A.   +6 more
europepmc   +1 more source

Hepatic Steatosis: A Presentation of Cholesteryl Ester Storage Disease. [PDF]

ACG Case Rep J
Lee A, Raasikh T, Bangaru S, Yano S, Chopra S, Saito T.   +5 more
europepmc   +1 more source