Results 141 to 150 of about 5,268,641 (220)

[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

Reduced native T₁ on cardiac magnetic resonance imaging as a novel marker of myocardial involvement in Niemann-Pick disease type B. [PDF]

Am Heart J Plus
Redzepi B, Antiochos P, Tran C, Barbosa JV, Masi A, Zhang M, Adheriyani R, Campos-Xavier B, Schwitter J.   +8 more
europepmc   +1 more source

Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1. [PDF]

Mol Genet Metab
Porter FD, Alexander DM, Albert OK, Robbins KP, Labor DA, Borruso AJ, Farhat NY, Jiang X, Berry-Kravis E.   +8 more
europepmc   +1 more source

Role of mTORC1 signaling in postnatal microglia activation preceding neurodegeneration in a mouse model for Niemann-Pick disease Type C. [PDF]

PLoS One
Murray CE, Betancourt-Trompa DS, Martinez MS, Carson JM, Walsh LJ, Remillard WC, Fordyce KB, Reddy R, Soto I.   +8 more
europepmc   +1 more source

Prevalence of Neutralizing Antibodies to AAV2 and AAV9 in Individuals with Niemann-Pick Disease, Type C1. [PDF]

Hum Gene Ther
Mylvara AV, Davidson CD, Alexander D, Venditti CP, Porter FD.   +4 more
europepmc   +1 more source

Inability of α-cyclodextrins to accommodate cholesterol potentially underlies their lack of efficacy and ototoxicity in Niemann-Pick disease type C treatment. [PDF]

Sci Rep
Yamada Y, Tanaka M, Ikeda Y, Kondo Y, Takeo T, Nakagata N, Miwa T, Takeda H, Orita Y, Motoyama K, Higashi T, Arima H, Seki T, Kurauchi Y, Katsuki H, Higaki K, Matsusaka K, Minami K, Yoshikawa N, Ikeda R, Matsuo M, Irie T, Ishitsuka Y.   +22 more
europepmc   +1 more source

A Rare Case of Niemann-Pick Disease Type-A. [PDF]

Cureus
Gul F, Begum S, Rasool P, Shah S, Waqar M.   +4 more
europepmc   +1 more source

CffDNA screening for Niemann-pick disease, type C1: a case series. [PDF]

Front Med (Lausanne)
Lau SA, Fawaz RI, Rigobello R, Bawazeer S, Alajaji NM, Faqeih E, Li Y, Feng Y, Xia F, Eng CM, Abedalthagafi M.   +10 more
europepmc   +1 more source