Results 141 to 150 of about 90,357 (220)

D-30 BIOMARKERS FOR LYSOSOMAL STORAGE DISORDERS: CLINICAL APPROACH

, 2018
Sema Kalkan Uçar
openalex   +1 more source

Extracellular matrix components: An intricate network of possible biomarkers for lysosomal storage disorders? [PDF]

, 2013
Spyros Batzios, Dimitrios Zafeiriou, Eleni Papakonstantinou   +2 more
openalex   +1 more source

Natural history and management of liver dysfunction in lysosomal storage disorders. [PDF]

World J Hepatol, 2022
Sen Sarma M, Tripathi PR.
europepmc   +1 more source

Influence of Initial Clinical Guidance on the Diagnostic Yield by Laboratory Enzymatic Testing in Lysosomal Storage Disorders. Experience from a Multispecialty Hospital

, 2022
Clara Carnicer-Cáceres, Yolanda Villena-Ortiz, Laura Castillo‐Ribelles, Raquel Barquín-del-Pino, María Camprodón-Gómez, Ana Felipe‐Rucián, David Moreno-Martínez, Sara Lucas Del Pozo, Jorge Hernández‐Vara, Ariadna Tigri-Santiña, Marc Moltó‐Abad, Irene Agraz, José F. Rodríguez‐Palomares, Javier Limeres Freire, Marc Macaya-Font, Victor Rodríguez‐Sureda, Lucy Dougherty De Miguel, Mireia del-Toro-Riera, Guillem Pintos‐Morell, Jose Antonio Arranz-Amo   +19 more
openalex   +1 more source

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders. [PDF]

J Inherit Metab Dis
Lorino M, Qiu B, Bigger B.
europepmc   +1 more source

Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study. [PDF]

Orphanet J Rare Dis, 2022
Eskes ECB, Beishuizen CRL, Corazolla EM, van Middelaar T, Brands MMMG, Dekker H, van de Mheen E, Langeveld M, Hollak CEM, Sjouke B.   +9 more
europepmc   +1 more source

The Hidden Burden: Gastrointestinal Involvement in Lysosomal Storage Disorders. [PDF]

Metabolites
Gragnaniello V, Cazzorla C, Gueraldi D, Puma A, Loro C, Burlina AB.   +5 more
europepmc   +1 more source

Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders. [PDF]

Mol Omics, 2022
Li W, Cologna SM.
europepmc   +1 more source

Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing. [PDF]

Orphanet J Rare Dis
Makhamreh MM, Shivashankar K, Rice SM, Wodoslawsky S, Grant C, McLaren R, Berger SI, Al-Kouatly HB.   +7 more
europepmc   +1 more source

Enhanced delivery of α-glucosidase for Pompe disease by ICAM-1-targeted nanocarriers: comparative performance of a strategy for three distinct lysosomal storage disorders

, 2011
Janet Hsu, Laura Northrup, Tridib Kumar Bhowmick, Silvia Muro   +3 more
openalex   +2 more sources