Results 111 to 120 of about 18,841 (183)

Foamy Macrophages and Blue Histiocytes as Diagnostic Clues to Acid Sphingomyelinase Deficiency. [PDF]

EJHaem
Franch A, Ribell Bachs M, Álamo Moreno JR.   +2 more
europepmc   +1 more source

<i>Listeria ivanovii</i>-an underestimated pathogen in veterinary medicine. [PDF]

Front Vet Sci
Kozytska T, Neubauer H, Wareth G.
europepmc   +1 more source

Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report. [PDF]

Front Pediatr
Kamalova A, Rakhmaeva R, Sageeva G, Safiullina R, Raimova A, Gaichik E, Nasr D, Gobarah AA, Arafat A.   +8 more
europepmc   +1 more source

Correction: Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes. [PDF]

Orphanet J Rare Dis
Villeneuve T, Jamme T, Schwob R, Levade T, Prévot G.   +4 more
europepmc   +1 more source

Alkaline sphingomyelinase (ENPP7) attenuates DSS-induced colitis by modulating FOXO1-mediated antioxidative stress responses. [PDF]

BMC Gastroenterol
Cao W, Cheng Y, Wang X, Wang L, Li R, Pei S, Zhang G, Petersen JD, Zhang P.   +8 more
europepmc   +1 more source

Plasma acid sphingomyelinase activity in sepsis: diagnostic utility and association with disease severity. [PDF]

Crit Care
Park MH, Jin HK, Choi BJ, Yoon HJ, Cheon DH, Jung S, Kim C, Bae JS.   +7 more
europepmc   +1 more source

Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature. [PDF]

Mol Cell Pediatr
El-Mezayen M, Tawfik AM, Hadhoud AM, Gerges VM, Afify MH.   +4 more
europepmc   +1 more source

Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes. [PDF]

Int J Neonatal Screen
Courtney E, Isenberg SL, Lim T, Pickens CA, Lee R, Cuthbert C, Petritis K.   +6 more
europepmc   +1 more source

Stratum Corneum Ceramide Abnormalities in Atopic Dermatitis: Pathophysiology and Implications for Disease Management. [PDF]

J Dermatol
Sakai T.
europepmc   +1 more source

A suspicion index tool to aid the diagnosis and treatment of ASMD. [PDF]

Orphanet J Rare Dis
Wiesinger AM, Zimmermann G, Lauth W, Muschol N, Möslinger D, Konstantopoulou V, Scholl-Bürgi S, Karall D, Giugliani R, Mengel E, Aigner E, Weghuber D, Lagler FB.   +12 more
europepmc   +1 more source