Results 221 to 230 of about 23,025 (248)

Lysosomal storage disorders.

2023
Allison Fairchild, Melina Islas
openaire   +1 more source

Recalcitrant chronic rhinosinusitis in the setting of fucosidosis, a rare lysosomal storage disorder

International Journal of Pediatric Otorhinolaryngology, 2017
Vikash K Modi, Aaron N Pearlman
exaly  

Developmental changes in cerebral white matter microstructure in a disorder of lysosomal storage

Cortex, 2010
Lawrence R Frank, Rebecca J Theilmann, John R Hesselink   +2 more
exaly  

Diagnosis of lysosomal storage disorders

Medical Journal of Australia, 1984
openaire   +2 more sources

A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase

Lipids and Lipid Metabolism, 1980
Andrew E Gal, P G Pentchev, R O Brady
exaly  

TREATMENT OF LYSOSOMAL STORAGE DISORDERS

2020
BITAN GAL, FRALDI ALESSANDRO, SAMBRI IRENE, MONACO ANTONIO   +3 more
openaire   +5 more sources

Receiving Enzyme Replacement Therapy for a Lysosomal Storage Disorder: A Preliminary Exploration of the Experiences of Young Patients and Their Families

Journal of Genetic Counseling, 2013
Robert R. Freedman
exaly  

Glycoprotein lysosomal storage disorders: α- and β-mannosidosis, fucosidosis and α--acetylgalactosaminidase deficiency

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 1999
André Klein, Jean-Claude Michalski, J C Michalski   +2 more
exaly  

New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy

Human Genetics, 2006
Michael Beck
exaly  

Improved Metabolic Correction in Patients with Lysosomal Storage Disease Treated with Hematopoietic Stem Cell Transplant Compared with Enzyme Replacement Therapy

Journal of Pediatrics, 2009
Karen Tylee, Brian Bigger, J Ed Wraith
exaly