Results 131 to 140 of about 7,143 (200)

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

Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review. [PDF]

World J Methodol
Tsirikos AI, Jain A, Ahuja K.
europepmc   +1 more source

Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview. [PDF]

Biomolecules
Lipiński P, Różdżyńska-Świątkowska A, Wiśniewska K, Rusecka J, Ługowska A, Żuber Z, Jezela-Stanek A, Cyske Z, Gaffke L, Pierzynowska K, Węgrzyn G, Tylki-Szymańska A.   +11 more
europepmc   +1 more source

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations [PDF]

, 2010
Helena Poupětová, Jana Ledvinová, Linda Berná, Lenka Dvořáková, Viktor Kožich, Milan Elleder   +5 more
core   +1 more source

Iron metabolism and hematological abnormalities in adult patients affected with mucopolysaccharidoses. [PDF]

Mol Genet Metab Rep
Kaciulyte G, Yorulmaz G, Sharma R, Jones SA, Wynn R, Church H, Tylee K, Bilgin M, Jovanovic A, Woolfson P, Stepien KM.   +10 more
europepmc   +1 more source

Heparan sulfate binding protein treatment ameliorates neuropathology and behavioral abnormalities in mucopolysaccharidosis IIIB mice. [PDF]

Cell Death Discov
Anzilotti S, Scarcella M, Ciampa M, Di Muraglia N, Anastasio C, Fiorentino C, Rossin F, Avallone L, Pignataro G, Pavone LM, De Pasquale V.   +10 more
europepmc   +1 more source

Mucopolysaccharidoses

, 2020
openaire   +2 more sources

Mucopolysaccharidoses types I and IIIA: Diagnosis and identification of novel polymorphisms associated with common mutations in Moroccan patients. [PDF]

Mol Genet Metab Rep
El Fissi H, Bouzid F, Sebbar MS, Serghini MA, Msanda F, Alif N.   +5 more
europepmc   +1 more source

Neuraminidase 1 secondary deficiency contributes to CNS pathology in neurological mucopolysaccharidoses via brain protein hypersialylation. [PDF]

J Clin Invest
Xu T, Heon-Roberts R, Moore T, Dubot P, Pan X, Guo T, Cairo CW, Holley RJ, Bigger B, Durcan TM, Levade T, Ausseil J, Amilhon B, Gorelik A, Nagar B, Khan S, Tomatsu S, Sturiale L, Palmigiano A, Röckle I, Thiesler H, Hildebrandt H, Garozzo D, Pshezhetsky AV.   +23 more
europepmc   +1 more source

A Rare Case of Hunter Syndrome (Mucopolysaccharidosis II) With Bilateral Maculopathy Associated With Rod-Cone Dystrophy. [PDF]

Cureus
Quaicoe ASP, Cornish EE, Chong R.
europepmc   +1 more source