Results 151 to 160 of about 31,322 (227)

Early Diagnosis of Gaucher Disease and ASMD in Sardinia: The "Ichnos" Project. [PDF]

Mediterr J Hematol Infect Dis
Costa A, Perra D, Mulas O, Podda L, Longu F, Fozza C, Palmas A, Curreli L, Cappellini MD, Zizzo C, Caocci G.   +10 more
europepmc   +1 more source

Real-life impacts of olipudase alfa: experiences of adults receiving enzyme replacement therapy for acid sphingomyelinase deficiency-results from an international survey study. [PDF]

Orphanet J Rare Dis
Morsy AS, Mbua S, Mathieson T, Hopkin J, Bolton S.   +4 more
europepmc   +1 more source

Retention of lysosomal acid sphingomyelinase protects from Niemann-Pick Disease. [PDF]

Neurobiol Dis
Beard CA, Hermanson KN, Snider JM, Hara A, Dahl BK, Allopenna JJ, Marron MT, Newcomb B, Low BE, Wiles MV, Jenkins RW, Obeid LM, Hannun YA, Snider AJ.   +13 more
europepmc   +1 more source

Risk of Acute Infections in New Users of Antihypertensive Drugs: An Observational Cohort Study. [PDF]

J Am Heart Assoc
Aebi N, Meier CR, Jick SS, Lang U, Spoendlin J.   +4 more
europepmc   +1 more source

Repurposing caspofungin as a small-molecule inhibitor of Clostridium perfringens α-toxin for treatment of gas gangrene. [PDF]

Commun Med (Lond)
Takehara M, Homma Y, Ishihara T, Sakaguchi Y, Kasai Y, Matsumoto K, Nakashima K, Yamaji T, Tanaka Y, Imagawa H, Nagahama M.   +10 more
europepmc   +1 more source

Outcome of enzyme replacement therapy for hematological and visceral manifestations in children with acid sphingomyelinase deficiency: a single center experience in upper Egypt. [PDF]

Mol Cell Pediatr
Youssef MAM, Shaker EH, Saleh NAM.
europepmc   +1 more source

Molecular Maestro in the Lung: The Sphingolipid Rheostat. [PDF]

Am J Respir Cell Mol Biol
Rojas-Quintero J, Polverino F.
europepmc   +1 more source

Sphingolipids in Gaucher disease: a systematic review. [PDF]

Orphanet J Rare Dis
Lake A, Fuller M.
europepmc   +1 more source

Early Diagnosis of Nieman-Pick Disease Type C and Rapid Response of Gelastic Cataplexy to Treatment With N-Acetyl-L-Leucine: A Case Report. [PDF]

Am J Case Rep
Rojnueangnit K, Puttamanee S, Intarakhao S, Khusiwilai K.   +3 more
europepmc   +1 more source