Results 61 to 70 of about 13,122 (135)

Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry

Data in Brief, 2016
In this data article we provide a detailed standard operating procedure for performing a tandem mass spectrometry, multiplex assay of 6 lysosomal enzymes for newborn screening of the lysosomal storage diseases Mucopolysaccharidosis-I, Pompe, Fabry ...
Susan Elliott, Norman Buroker, Jason J. Cournoyer, Anna M. Potier, Joseph D. Trometer, Carole Elbin, Mack J. Schermer, Jaana Kantola, Aaron Boyce, Frantisek Turecek, Michael H. Gelb, C. Ronald Scott   +11 more
doaj   +1 more source

microRNAs: A connection between cholesterol metabolism and neurodegeneration

Neurobiology of Disease, 2014
Dysregulation of cholesterol metabolism in the brain has been associated with many neurodegenerative disorders such as Alzheimer's disease, Niemann–Pick type C disease, Smith–Lemli–Opitz syndrome, Hungtington's disease and Parkinson's disease ...
Leigh Goedeke, Carlos Fernández-Hernando   +1 more
doaj   +1 more source

Niemann-Pick disease type B: HRCT assessment of pulmonary involvement

Jornal Brasileiro de Pneumologia
Objective: To analyze HRCT findings in patients with Niemann-Pick disease (NPD) type B, in order to determine the frequency of HRCT patterns and their distribution in the lung parenchyma, as well as the most common clinical characteristics.
Heloisa Maria Pereira Freitas, Alexandre Dias Mançano, Rosana Souza Rodrigues, Bruno Hochhegger, Pedro Paulo Teixeira e Silva Torres, Dante Escuissato, Cesar Augusto Araujo Neto, Edson Marchiori   +7 more
doaj   +1 more source

Short-lived Niemann-Pick type C mice with accelerated brain aging as a novel model for Alzheimer’s disease research

Neural Regeneration Research
Alzheimer’s disease is initially thought to be caused by age-associated accumulation of plaques, in recent years, research has increasingly associated Alzheimer’s disease with lysosomal storage and metabolic disorders, and the explanation of its ...
Vikas Anil Gujjala, Morteza Abyadeh, Isaiah Klimek, Alexander Tyshkovskiy, Naci Oz, José Pedro Castro, Vadim N. Gladyshev, Jason Newton, Alaattin Kaya   +8 more
doaj   +1 more source

Unique molecular signature in mucolipidosis type IV microglia

Journal of Neuroinflammation, 2019
Background Lysosomal storage diseases (LSD) are a large family of inherited disorders characterized by abnormal endolysosomal accumulation of cellular material due to catabolic enzyme and transporter deficiencies.
Antony Cougnoux, Rebecca A. Drummond, Mason Fellmeth, Fatemeh Navid, Amanda L. Collar, James Iben, Ashok B. Kulkarni, James Pickel, Raphael Schiffmann, Christopher A. Wassif, Niamh X. Cawley, Michail S. Lionakis, Forbes D. Porter   +12 more
doaj   +1 more source

Differential gene expression patterns in Niemann-Pick Type C and Tay-Sachs diseases: Implications for neurodegenerative mechanisms.

PLoS ONE
Lysosomal storage disorders (LSDs) are a group of rare genetic conditions characterized by the impaired function of enzymes responsible for lipid digestion.
Ramin Yousefpour Shahrivar, Fatemeh Karami, Ebrahim Karami   +2 more
doaj   +1 more source

Case report: Clinical, imaging, and genetic characteristics of type B niemann pick disease combined with segawa syndrome diagnosed via dual gene sequencing

Frontiers in Genetics
Niemann Pick disease B (NPB) often presents with hepatosplenomegaly and lung pathological changes, but it usually does not present with central nervous system symptoms. This report presents the unique case of a 21-year-old woman with a 10-year history of
Fang Wu, Dongying Su, Weisi Wang, Xia Song, Shufeng Fan, Jinzhan Su, Linying Ma, Jianxia Xu, Qinpan Rao   +8 more
doaj   +1 more source

Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene. [PDF]

Med J Islam Repub Iran, 2019
Zahedi Abghari F, Bayat F, Razipour M, Karimipoor M, Taghavi-Basmenj M, Zeinali S, Davoudi-Dehaghani E.   +6 more
europepmc   +1 more source

Patient Perspective-Where Does the Value for Money of a Treatment Really Lie? [PDF]

J Inherit Metab Dis
Mathieson TA, Evans WRH, Hopkin JL, Cowie SL.   +3 more
europepmc   +1 more source

Lack of cathepsin B increases severity in Niemann-Pick disease, type C1 mice. [PDF]

Neurosci Lett
Luke R, Cawley NX, Porter FD.
europepmc   +1 more source