Results 201 to 210 of about 90,357 (220)

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India. [PDF]

Hum Genomics
Sheth H, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Kadam S, Nampoothiri S, Panigrahi I, Kaur A, Shah S, Mehta S, Jagadeesan S, Suresh I, Kapoor S, Bajaj S, Devi RR, Prajapati A, Godbole K, Patel H, Luhar Z, Shah RC, Iyer A, Bijarnia S, Puri R, Muranjan M, Shah A, Magar S, Gupta N, Tayade N, Gandhi A, Sowani A, Kale S, Jalan A, Solanki D, Dalal A, Mane S, Prabha CR, Sheth F, Joshi CG, Joshi M, Sheth J.   +41 more
europepmc   +1 more source

A Comparative Study on the Alterations of Endocytic Pathways in Multiple Lysosomal Storage Disorders

, 2015
Jeffrey A. Rappaport, Rachel L. Manthe, Melani Solomon, Carmen Garnacho, Silvia Muro   +4 more
openalex   +2 more sources

Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients. [PDF]

Int J Mol Sci
Carvalho S, Santos JI, Moreira L, Duarte AJ, Gaspar P, Rocha H, Encarnação M, Ribeiro D, Barbosa Almeida M, Gonçalves M, David H, Matos L, Amaral O, Diogo L, Ferreira S, Santos C, Martins E, Prata MJ, Pereira de Almeida L, Alves S, Coutinho MF.   +20 more
europepmc   +1 more source

Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening

, 2012
Thomas P. Mechtler, Thomas F. Metz, Hannes G. Müller, Katharina M. Ostermann, Rene Ratschmann, Víctor R. De Jesús, Bori Shushan, Joseph M. Di Bussolo, Joseph L. Herman, K. Herkner, David C. Kasper   +10 more
openalex   +2 more sources

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

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

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation [PDF]

, 2019
Ahmed, Alia, Chen, Agnes, Dickson, Patricia, Eisengart, Julie B, King, Kelly, Ou, Li, Rudser, Kyle, Shapiro, Elsa, Whitley, Chester B   +8 more
core   +1 more source

Impact of COVID-19 pandemic on healthcare delivery for lysosomal storage disorders at a tertiary care public hospital in Mumbai.

J Postgrad Med
Muranjan M, Karande S, Rajoria S.
europepmc   +1 more source

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Lysosomal Storage Disorders

Mayo Clinic Neurology Board Review, 2021
Lysosomes are membrane-bound organelles that degrade various macromolecules. Lysosomal storage diseases are a clinically, enzymatically, and genetically heterogeneous group of disorders resulting from intracellular accumulation of substrates.
R. Dhamija, Erin Conboy, Lily C. Wong-Kisiel   +2 more
semanticscholar   +2 more sources

Treatment for Lysosomal Storage Disorders.

Current pharmaceutical design, 2020
Lysosomal storage disorders comprise a group of approximately 70 types of inherited diseases resulting due to lysosomal gene defects. The outcome of the defect is a deficiency in either of the three: namely lysosomal enzymes, activator protein, or ...
J. Sheth, Aadhira Nair
semanticscholar   +1 more source