Results 91 to 100 of about 15,664 (135)

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

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

Clinical Evaluation of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C: A Critical Perspective. [PDF]

Mov Disord Clin Pract
Lopez G, Holgado C.
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

Infantile Cholestatic Jaundice: A Variant of Niemann-Pick Disease Type C2. [PDF]

Cureus
Mohammed S, Mujibur Rahman A, R A.
europepmc   +1 more source

Cerebrospinal Fluid and Serum Neuron-Specific Enolase in Niemann-Pick Disease Type C1. [PDF]

Am J Med Genet A
Padilla CJ, Alexander DM, Labor DA, Albert OK, Robbins KP, Berry-Kravis E, Porter FD.   +6 more
europepmc   +1 more source