Results 121 to 130 of about 8,917 (217)

Integrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report. [PDF]

Mol Genet Metab Rep
Sharma A, Vashist M, Kaushik R, Rohilla G, Narwal S.   +4 more
europepmc   +1 more source

Aortic annular ectasia: An unusual finding in an infant with Pompe disease [PDF]

Gokulakrishnan Rajasekar, Vaishnavi Sreenivasan, Arunmozhithevan Radjendirane, Maheswari Karunanidhi   +3 more
openalex   +1 more source

Bone density in patients with late onset Pompe disease [PDF]

, 2012
George K. Papadimas, Gerasimos Terzis, Constantinos Papadopoulos, A. Areovimata, Konstantinos Spengos, Stavros A. Kavouras, Panagiota Manta   +6 more
openalex   +1 more source

Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review. [PDF]

Front Immunol
Kishnani PS, Van Den Hout JMP, Hahn A, Kronn D, Chien YH, Han M, Heuterman J, Sparks S, Glen C, Daba N.   +9 more
europepmc   +1 more source

An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease. [PDF]

Ital J Pediatr
Leo F, Barchi L, Russo G, Balestri E, Chesi E, Di Dio F, Garavelli L, Iughetti L, Gargano G.   +8 more
europepmc   +1 more source

Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity [PDF]

, 2019
Monica Y. Niño, Stijn L.M. in ‘t Groen, Atze J. Bergsma, Nadine A. M. E. van der Beek, Marian A. Kroos, Marianne Hoogeveen‐Westerveld, Ans T. van der Ploeg, W.W.M. Pim Pijnappel   +7 more
openalex   +1 more source

Correction: Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease? [PDF]

BioDrugs
Faraguna MC, Lambregts DAM, Barzel I, Jacobs EH, Hoogeveen-Westerveld M, van der Beek NAME, Pijnappel WWMP, Gasperini S, Preijers T, van den Hout JMP, van der Ploeg AT.   +10 more
europepmc   +1 more source

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease [PDF]

, 2019
Priya S. Kishnani, James B. Gibson, Michael J. Gambello, Richard E. Hillman, David W. Stockton, David Kronn, Nancy D. Leslie, Loren Peña, Pranoot Tanpaiboon, John Day, Raymond Wang, Jennifer Goldstein, Kristina An Haack, Susan Sparks, Yang Zhao, Si Houn Hahn   +15 more
openalex   +1 more source

Pompe disease [PDF]

, 2019
openaire   +1 more source

Genotype-phenotype correlation and CRIM status in Vietnamese children with Pompe disease: a single-center experience. [PDF]

Future Sci OA
Nguyen THT, Nguyen NTT, Chu HPT, Tran HNT, Duong NM, Lu YT, Tang HS, Tran DT, The Nguyen PN.   +8 more
europepmc   +1 more source