Results 91 to 100 of about 2,135 (156)

Plain Language Summary of the ASCEND-Peds study looking at the results of treatment with olipudase alfa after two years in children with acid sphingomyelinase deficiency (ASMD)

Future Rare Diseases
P. Witters, Nathalie Guffon, Maurizio Scarpa   +2 more
semanticscholar   +1 more source

Targeting CD44 reverses sphingomyelin-induced oligodendrocyte maturation arrest in acid sphingomyelinase deficiency. [PDF]

EMBO Mol Med
Guerrero-Valero M, Melgarejo E, Marchena MA, Fernández-Gómez B, Mulero-Franco J, de Castro F, Schuchman EH, Ledesma MD.   +7 more
europepmc   +1 more source

Acid Sphingomyelinase Activity in Dried Blood Spot from Neonatal Intensive Care Unit-Admitted Neonates: A Pilot Study for Expanded Newborn Screening in Japan. [PDF]

Int J Neonatal Screen
Kato A, Noguchi A, Adachi H, Takahashi K, Ito M, Ito T, Ota S, Arai H.   +7 more
europepmc   +1 more source

Bidirectional crosstalk between the catalytic and moonlighting functions of human dipeptidyl peptidase 3: potential physiological implications. [PDF]

RSC Adv
Matić A, Šupljika F, Petohleb L, Tomašić Paić A, Kindl DC, Horvat G, Barbarić L, Oskomić M, Matovina M, Tomić A.   +9 more
europepmc   +1 more source

Real-World Actionability Analysis of Comprehensive Genomic Profiling Versus Single/Small-Gene Panels. [PDF]

Oncol Ther
Spin P, Bapat B, Moretz C, Dumanois R, Gilligan AM, Shokoohi M, Borgundvaag E, Fox J, Bifulco C, Bartlett D.   +9 more
europepmc   +1 more source

Prevention of new-onset chronic kidney disease with renin-angiotensin system blockers in type 2 diabetes with preserved kidney function. [PDF]

Ren Fail
Hsu WC, Hung SY, Lin SH, Chiou YY, Lin YL, Wang HH, Ho LC, Lee YC.   +7 more
europepmc   +1 more source

Procedure-specific outcomes of robotic versus laparoscopic Roux-en-Y gastric bypass and biliopancreatic diversion with duodenal switch across a decade of MBSAQIP adoption. [PDF]

J Robot Surg
Hany M, Zidan MH, Wafa A, Elmongui E, Al-Momani H, Hamdan K, Hindawi MD, Oviedo R.   +7 more
europepmc   +1 more source

GESUCHT: ASMD (Acid Sphingomyelinase Defiency) Typ-B (vormals Nieman Pick B)

Wiener Klinische Wochenschrift

semanticscholar   +1 more source

The Role of Metal Complexation in the Unfolding Energetics of a Nudix Hydrolase. [PDF]

Biochemistry
Alt N, Zhuang Y, Quirk S, Hernandez R.
europepmc   +1 more source

A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil. [PDF]

J Clin Med
Giugliani R, Siqueira ACM, Martins AM, Marcondes BF, Souza CFM, Dain Gandelman Horovitz D, Leão EKE, Gusto G, Carvalho GDS, Artigalás O, Boy R, Stefani RR, Rawat NS, Konidaris G.   +13 more
europepmc   +1 more source