Results 201 to 210 of about 25,072 (275)

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

[Pulmonary involvement in rare systemic diseases-part 2 : Pulmonary manifestations in the context of lysosomal and metabolic storage diseases, phacomatosis, and neuromuscular disorders]. [PDF]

Radiologie (Heidelb)
Happe J, Frauenfelder T.
europepmc   +1 more source

Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment. [PDF]

J Inherit Metab Dis
Casazza K, Cologna SM, Berry-Kravis E, Jarnes J, Porter FD.   +4 more
europepmc   +1 more source

Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1. [PDF]

Genet Med Open
Cawley NX, Zhou R, Mylvara A, Padilla CJ, Alexander D, Farhat N, Alvarez C, Cougnoux A, Berry-Kravis E, Cologna SM, Liu F, Porter FD.   +11 more
europepmc   +1 more source

Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series

Hedyeh Saneifard, Marjan Shakiba, Mohammadreza Alaei, Asieh Mosallanejad, Shirin Ghanefard, Mehrdad Yasaei, Kimia Karimi Toudeshki   +6 more
openalex   +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

Gene Expression Profile of the Cerebral Cortex of Niemann-Pick Disease Type C Mutant Mice. [PDF]

Genes (Basel)
Servín-Muñoz IV, Ortuño-Sahagún D, Reyes-Mata MP, Griñán-Ferré C, Pallàs M, González-Castillo C.   +5 more
europepmc   +1 more source

Exploring the relationship between lipid-lowering drug target genes and sensorineural hearing loss by Mendelian randomization. [PDF]

Medicine (Baltimore)
Yang Y, Huang HF, Pu KL.
europepmc   +1 more source

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker [PDF]

, 2014
Al Eisa, Nada, Cousins, Alison, et al.,, Hartung, Ralf, Hendriksz, Christian J, Jiang, Xuntian, Lachmann, Robin H, Mengel, Eugen, Ory, Daniel S, Sidhu, Rohini, Simmons, Louise, Smith, David A, Speak, Anneliese O, te Vruchte, Danielle, Wallom, Kerri L   +14 more
core   +1 more source

Lipids in kidney diseases: from systemic imbalance to intrarenal alterations of cellular lipid metabolism in rare and common kidney diseases. [PDF]

J Mol Med (Berl)
Garavaglia C, Ossoli A, Gomaraschi M.
europepmc   +1 more source