Results 171 to 179 of about 1,760 (179)

Simultaneous measurement of lysosomal enzyme activities associated with MPS II, MPS IIIB, MPS IVA, MPS IVB, MPS VI, MPS VII, and CLN 2 disorders from a dried blood spot via LC-MS/MS

2018
Smith, Sara E, DiPerna, Jim, Vranish, Alyssa, Potier, Anna, Trometer, Joe, Gelb, Michael   +5 more
openaire   +1 more source

Frequent GAG monitoring to evaluate the efficacy of enzyme replacement therapy in MPS IVA

Molecular Genetics and Metabolism
Nishitha R. Pillai, Jeanine R. Jarnes, Alia Ahmed, Chester B. Whitley   +3 more
openaire   +1 more source

All-in-one lentiviral vectors improving bone abnormalities in MPS IVA mice

Molecular Genetics and Metabolism
Betul Celik, Sampurna Saikia, Fnu Nidhi, Shaukat Khan, Shunji Tomatsu   +4 more
openaire   +1 more source

Crispr/Cas9-edited hematopoietic stem cells rescue MPS IVA fibroblasts phenotype

Molecular Genetics and Metabolism
Angelica Maria Herreno Pachon, Andres F. Leal, Shaukat Khan, Carlos Javier Alméciga-Díaz, Shunji Tomatsu   +4 more
openaire   +1 more source

In vivo direct bone targeting lentiviral gene therapy for MPS IVA murine model

Molecular Genetics and Metabolism
Betul Celik, Sampurna Saikia, Fnu Nidhi, Shaukat Khan, Shunji Tomatsu   +4 more
openaire   +1 more source

PCR197 Psychometric Validation of the Mucopolysaccharidosis Health Assessment Questionnaire (MPS-HAQ) for Mucopolysaccharidosis IVA

Value in Health
Christina Due, Maureen Cleary, Derralynn Hughes, Saikat Santra, James Davison, Alexandra Morrison, Karolina Stepien   +6 more
openaire   +1 more source

The complementary strength of the AAV9 gene therapy in hematopoietic stem cells transplanted into MPS IVA mice

Molecular Genetics and Metabolism
Sampurna Saikia, Betul Celik, Shaukat Khan, Shunji Tomatsu   +3 more
openaire   +1 more source

Lentiviral Vector-Mediated Ex Vivo Hematopoietic Stem Cell Gene Therapy for Mucopolysaccharidosis IVA Murine Model

Human Gene Therapy
Betul Çelik, Estera Rintz, Shaukat Khan   +2 more
exaly  

Phenotypic findings related to the c.1139 + 1 G > A variant in four individuals with MPS IVA

Molecular Genetics and Metabolism
openaire   +1 more source