Results 111 to 120 of about 6,173 (169)

Molecular characterization of a novel synonymous variant in a Mexican patient with Pompe disease. [PDF]

Mol Genet Metab Rep
Alaez-Verson C, González-Domínguez CA, Sanchez IV, Sanchez LMS, Flores IN, Kazakova E, Garcia-Solorio J, Molina-Garay C, Flores-Lagunes LL, Duncker IM.   +9 more
europepmc   +1 more source

Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis. [PDF]

JIMD Rep
Cohen JL, Beaman MM, Rodriguez-Rassi E, Stafford VG, Smith PB, Landstrom AP, Kishnani PS.   +6 more
europepmc   +1 more source

First multicenter real-world analysis of switching to next-generation enzyme replacement therapies in late-onset Pompe disease. [PDF]

J Neurol
Mendelsohn DH, Rosenbohm A, Güttsches AK, Kornblum C, Knop KC, Fangerau T, Nguyen-Younossi N, Shahyrova G, Garcia-Angarita N, Schoser B, Wenninger S.   +10 more
europepmc   +1 more source

Results of orthodontic procedure in a patient with classic infantile Pompe disease. [PDF]

Ital J Pediatr
Grimaldi CM, D'Alessandro D, Faraguna MC, Boggio A, Caldara G, Barzaghi S, Pretese R, Crescitelli V, Gasperini S.   +8 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

Measuring What Matters to Patients with Pompe Disease: A Review of Clinical Outcome Assessments for Capturing Treatment Benefits of Innovative Novel Therapies. [PDF]

Adv Ther
Rofail D, Ginchereau Sowell F, Williams B, Patel N, Karantzoulis S, Avbersek A.   +5 more
europepmc   +1 more source

Pompe's disease.

Indian pediatrics, 1986
R M, Joshi, M D, Mohire, B A, Bharucha, N B, Kumta, A P, Desai, A D, Desai   +5 more
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

Bone disease and osteoporosis associated with Pompe disease. [PDF]

JBMR Plus
Maxey L, Freibert H, Quinonez A, Malluche H, Rao M.   +4 more
europepmc   +1 more source