Results 81 to 90 of about 2,135 (156)

Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy

Diseases
Introduction: The differential diagnosis of splenomegaly is a complex process that encompasses a wide variety of diseases. Moreover, it is not always standardized and lacks a definitive consensus on which tests should be performed and in what order ...
Marta Morado Arias, Jesús Villarrubia Espinosa, Isidro Vitoria Miñana, Enrique Calderón Sandubete, Víctor Quintero, Miguel Ángel Torralba-Cabeza   +5 more
doaj   +1 more source

Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study

Molecular Genetics and Metabolism Reports
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease with multisystem complications including neurodegeneration, hepatosplenomegaly, interstitial lung disease (ILD), bone marrow disease, and growth failure.
Drew B. Sinha, William L. Simpson, Andrew Ting, Louise Bier, Mary Freeman, Lauren Mackenzie Mason, George A. Diaz, Jaya Ganesh   +7 more
doaj   +1 more source

Rare, Yet Among Us – Why Are We Still Missing ASMD?

Liječnički vjesnik

semanticscholar   +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

Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina. [PDF]

JIMD Rep
Robin MC, Durand C, Guelbert G, Guelbert N, Leguizamon M, Miñana MN, Cédola MA, de Lourdes Pacheco MG, Gonzalez E, Spallina M, Quijano S.   +10 more
europepmc   +1 more source

Clinical characteristics of asymmetric hearing loss in children from a large pediatric cohort. [PDF]

Commun Med (Lond)
Hahn LE, Fleischer M, Wohlfarth F, Althaus J, Mürbe D, Männel C, Hirschfelder A.   +6 more
europepmc   +1 more source

Screening for acid sphingomyelinase deficiency in patients with an interstitial lung disease. [PDF]

Orphanet J Rare Dis
Vermant M, Van Raemdonck I, Veyt N, Carlon MS, Cortesi EE, De Crem N, De Rooy M, Follet T, Gogaert S, Vanaudenaerde B, Cassiman D, De Sadeleer LJ, Wuyts WA.   +12 more
europepmc   +1 more source

Improvement in quality of life and general functions in pediatric acid sphingomyelinase deficiency patients after receiving olipudase alfa: A single-center experience in Taiwan. [PDF]

Mol Genet Metab Rep
Pan YW, Yu WH, Tsai MC, Chou YY.
europepmc   +1 more source

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results. [PDF]

J Inherit Metab Dis
Wasserstein MP, Hollak CE, Barbato A, Gallagher RC, Giugliani R, Guelbert NB, Hennermann JB, Ikezoe T, Lachmann R, Lidove O, Mabe P, Mengel E, Scarpa M, Senates E, Tchan M, Thurberg BL, Villarrubia J, Armstrong NM, Bhushan S, Kim Y, Kumar M.   +20 more
europepmc   +1 more source

Patient Perspective-Where Does the Value for Money of a Treatment Really Lie? [PDF]

J Inherit Metab Dis
Mathieson TA, Evans WRH, Hopkin JL, Cowie SL.   +3 more
europepmc   +1 more source