Results 151 to 160 of about 58,222 (243)

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

Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders.

Clinica chimica acta; international journal of clinical chemistry, 2012
Joseph J. Orsini, Monica Martin, Amanda L. Showers, Olaf A. Bodamer, X. K. Zhang, M. Gelb, M. Caggana   +6 more
semanticscholar   +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

Newborn Screening for Lysosomal Storage Disorders in Belgium [PDF]

, 2017
François Eyskens, Sylvie Devos
openalex   +1 more source

Impact of COVID-19 on the management of patients with Lysosomal Storage Disorders

, 2022
S. Sestito, F.B. Mercuri, F. De Masi, L. Oreto, M. Miraglia Del, S. Manti, G. Parisi, S. Leonardi, M.D. Ceravolo, C. Cuppari, R. Chimenz, B. Rodio, M.T. Moricca, L. Pensabene, D. Concolino   +14 more
openalex   +1 more source

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders [PDF]

, 2015
Jyotsna Verma, Divya C. Thomas, Sandeepika Sharma, Geetu Jhingan, Renu Saxena, Sudha Kohli, Ratna Dua Puri, Sunita Bijarnia, Ishwar C. Verma   +8 more
openalex   +1 more source

Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder—murine Pompe disease

Autophagy, 2010
N. Raben, Cynthia Schreiner, R. Baum, S. Takikita, Sengen Xu, Tao Xie, R. Myerowitz, M. Komatsu, J. H. Van der Meulen, K. Nagaraju, E. Ralston, P. Plotz   +11 more
semanticscholar   +1 more source

Treatment of lysosomal storage disorders: Focus on the neuronal ceroid-lipofuscinoses

, 2008
Chris Pierret, Jason A. Morrison, Mark D. Kirk   +2 more
openalex   +2 more sources

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

Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features

Proceedings of the National Academy of Sciences of the United States of America, 2003
Praveena K. Gupta, A. Soyombo, J. Shelton, I. G. Wilkofsky, K. Wisniewski, J. Richardson, S. Hofmann   +6 more
semanticscholar   +1 more source