Results 121 to 130 of about 14,555 (206)

Hidden Burden of Lipid Accumulation: A Clinical Case of Niemann-Pick Disease. [PDF]

Cureus
Ghonaimat RA, Shneikat A, Foudeh BM, Alsamhouri I.   +3 more
europepmc   +1 more source

Metabolic improvement in patients with acid sphingomyelinase deficiency following intravenous trehalose administration: an untargeted pharmacometabolomic study. [PDF]

Orphanet J Rare Dis
Khoshakhlagh M, Hasanpour M, Iranshahi M, Asili J, Tasbandi A, Jamialahmadi T, Sahebkar A, Iranshahy M.   +7 more
europepmc   +1 more source

[Niemann-Pick disease with two missense mutations in SMPD1 gene: a case report and literature review]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Wei Y, Guo H, Xu JN, Chen YY, Shi HX.
europepmc   +1 more source

Stress and anxiety among caregivers of adult patients with Niemann-Pick Type C disease

Family Medicine & Primary Care Review
Izabela Dawidowska-Nowak, Joanna Biegańska-Banaś, Beata Kieć-Wilk   +2 more
doaj   +1 more source

Neurodegenerative Diseases in Children: A Comprehensive Review. [PDF]

Int J Mol Sci
Ailioaie C, Ailioaie LM, Stan CI, Sava A, Chiran DA.   +4 more
europepmc   +1 more source

Sphingolipid metabolism and hematologic disorders: current understanding and future directions. [PDF]

Front Physiol
Kuang Z, Huang T, Chen G.
europepmc   +1 more source

Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1. [PDF]

Mol Genet Metab
Agrawal N, Bianconi S, Jaeger R, Farhat NY, Alexander DM, Sinaii N, Hadigan C, Berry-Kravis E, Porter FD.   +8 more
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

Pleiotropic Cholesterol Signaling in <i>Drosophila</i> and Mammalian Systems. [PDF]

Metabolites
Kang Y, Atif M, Lee Y.
europepmc   +1 more source

Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood. [PDF]

Sisli Etfal Hastan Tip Bul
Gulten ZA, Cetincelik U, Guler A, Guler GB.   +3 more
europepmc   +1 more source