Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

Catherine Dodé, Jacqueline Levilliers, Jean‐Michel Dupont, +27

Nature Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsLoss-of-function Mutations +1

Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial

Andrea Amalfitano, A. Resai Bengur, Richard P. Morse, +15

Genetics in Medicine

Translational MedicineBiochemistryInherited Metabolic DiseaseGlycobiologyPediatrics +3

Production and Characterization of Improved Adenovirus Vectors with the E1, E2b, and E3 Genes Deleted

Andrea Amalfitano, Michael A. Hauser, Huimin Hu, +3

Journal of Virology

Viral ReplicationImmunologyMolecular BiologyAd Vector ReplicationVirus Gene +17

Adenovirus Vector-Induced Innate Inflammatory Mediators, MAPK Signaling, As Well As Adaptive Immune Responses Are Dependent upon Both TLR2 and TLR9 In Vivo

Daniel M. Appledorn, Sonika Patial, Aaron J. McBride, +4

The Journal of Immunology

Adaptive Immune SystemInnate Immune SystemImmunologyImmunologic MechanismInnate Immunity +16

Evasion of Immune Responses to Introduced Human Acid α-Glucosidase by Liver-Restricted Expression in Glycogen Storage Disease Type II

Luis M. Franco, Baodong Sun, Xiaoyi Yang, +9

Molecular Therapy

Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-α-glucosidase

Andrea Amalfitano, Alison McVie‐Wylie, Hao Hu, +4

Proceedings of the National Academy of Sciences

Efficacy of an Adeno-associated Virus 8-Pseudotyped Vector in Glycogen Storage Disease Type II

Baodong Sun, Haoyue Zhang, Luis M. Franco, +6

Molecular Therapy

Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease

Yan An, Sarah P. Young, Priya S. Kishnani, +4

Molecular Genetics and Metabolism

Pompe DiseaseBiomarker (Medicine)BiochemistryMedicineBioanalysis +12

Nephrotic Syndrome Complicating α-Glucosidase Replacement Therapy for Pompe Disease

Tracy E. Hunley, Deyanira Corzo, Martha Dudek, +7

PEDIATRICS

Multiple Innate Inflammatory Responses Induced after Systemic Adenovirus Vector Delivery Depend on a Functional Complement System

Anne Kiang, Zachary C. Hartman, Ruth Everett, +4

Molecular Therapy