Results 101 to 110 of about 41,033 (195)

Home Infusion With Recombinant Human α-Glucosidase in Children With Pompe Disease: The Dutch Experience Over 20 Years Across the Spectrum From Classic Infantile to Late-Onset Phenotypes. [PDF]

BioDrugs
Ditters IAM, Huidekoper HH, Hardon JF, Kruijshaar ME, van der Ploeg AT, van den Hout JMP.   +5 more
europepmc   +1 more source

A case of progressive multifocal leukoencephalopathy in an adult patient with ADA-SCID. [PDF]

J Hum Immun
Shin H, Broderick L, Azevedo J, Mulligan C, Hird K, Goodwill V, Parkin C, Mortensen S, Traveller M, Rayes A, Bohnsack J, Kohn DB, Tarrant TK, Hershfield M, Lyons JJ.   +14 more
europepmc   +1 more source

Two Faces of the Right Ventricle in Fabry Cardiomyopathy: Septal-Coupled and Atrial-Coupled Strain Patterns and Their Differential Associations with Enzyme Replacement Therapy. [PDF]

Biomolecules
Sung KT, Niu DM, Hsu SF, Liu ME, Lin PL, Lai YH, Yang HW, Lu YH, Tsai CT, Hung TC, Chen PS, Hung CL.   +11 more
europepmc   +1 more source

Delayed Diagnosis of Type 1 Gaucher Disease at Age 15 After Years of Mild Cytopenias and Splenomegaly: A Case Report and Long-Term Follow-Up. [PDF]

Am J Case Rep
Muras-Szwedziak K, Kasznicki J, Wegner O, Wójcik M, Wojtyczka O.   +4 more
europepmc   +1 more source

Combined Intracerebroventricular Enzyme Replacement and Cord Blood Transplantation in Patients with Mucopolysaccharidosis Type II Diagnosed Through Newborn Screening. [PDF]

Int J Neonatal Screen
Ueda Y, Hirabayashi S, Miura M, Yamada S, Nakakubo S, Nakajima M, Goto T, Abe J, Terashita Y, Manabe A, Okuyama T, Egawa K.   +11 more
europepmc   +1 more source

System-Level Integration and Evaluation of an APS-SoC-Based Electrical Resistance Tomography Measurement System. [PDF]

Sensors (Basel)
Luo D, Han Z, Zhu S, Yue S.
europepmc   +1 more source

Evolving Therapeutic Paradigms in Pediatric Hypophosphatasia: From Survival-Driven Care to Integrated Precision Management. [PDF]

Int J Mol Sci
Florescu A, Vintilă TC, Vasiliu I, Bădulescu OV, Lupu A, Bararu-Bojan I, Lupu VV, Simionescu B, Grosu C, Iațentiuc A, Miron I, Frăsinariu OE.   +11 more
europepmc   +1 more source

Plasma KL-6 reflects pulmonary severity and longitudinal response to enzyme replacement therapy in acid sphingomyelinase deficiency type B. [PDF]

Mol Genet Metab Rep
Cifuentes-Uribe K, Guffon N, Boulière L, Turquier S, Acquaviva-Bourdain C, Froissart R, Pettazzoni M.   +6 more
europepmc   +1 more source

AAV9-mediated GAA gene therapy following enzyme replacement therapy discontinuation in children with infantile-onset Pompe disease. [PDF]

EClinicalMedicine
Liu X, Mao Y, Hu L, He W, Wang X, Guo X, Li M, Wang Y, Wang Y, Ma W, Yuan Y, Wang Z, Yu S, Zhang S, Wu S, Dong X, Wu X, Yang G.   +17 more
europepmc   +1 more source

The Impact of Hydrotherapy on Health-Related Quality of Life, Pain and Mobility in Individuals With Mucopolysaccharidosis Type II (Hunter Syndrome): A Pilot Feasibility Study. [PDF]

JIMD Rep
Oldham A, Stockton N, Warburton M, Heal C, Meehan M, Stepien KM, MPS Society.   +6 more
europepmc   +1 more source