Results 151 to 160 of about 3,802,908 (215)

Characterization of central manifestations in patients with Niemann-Pick disease type C. [PDF]

Genet Med
van Gool R, Golden E, Goodlett B, Zhang F, Vogel AP, Tourville JA, Yao K, Cay M, Tiwari S, Yang E, Zekelman LR, Todd N, O'Donnell LJ, Ren B, Bodamer OA, Al-Hertani W, Upadhyay J.   +16 more
europepmc   +1 more source

The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review. [PDF]

Biomolecules
Tirelli C, Rondinone O, Italia M, Mira S, Belmonte LA, De Grassi M, Guido G, Maggioni S, Mondoni M, Miozzo MR, Centanni S.   +10 more
europepmc   +1 more source

Global and Targeted Metabolomics for Revealing Metabolomic Alteration in Niemann-Pick Disease Type C Model Cells. [PDF]

Metabolites
Watanabe M, Maekawa M, Miyoshi K, Sato T, Sato Y, Kumondai M, Fukasawa M, Mano N.   +7 more
europepmc   +1 more source

Niemann--Pick's disease.

Indian pediatrics, 1970
C M, Mahajan, H J, Singh
openaire   +1 more source

N-Acetyl-l-Leucine (NALL) rescues inter-organelle communication in Niemann-Pick disease type-C patient cells

Kiraly S, Martello A, Platt FM, Eden ER.
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Niemann-Pick disease

Pathology - Research and Practice, 1989
Results of the investigation carried out during this decade brought unambigous evidence of biochemical heterogeneity inside the complex of Niemann-Pick disease according to which two entirely different metabolic disorders can be recognized. 1. Niemann-Pick sphingomyelinosis, a clear-cut enzymopathy, the pivotal lesion of which is the deficiency of ...
Jacob Valk, Marjo S. van der Knaap
openaire   +3 more sources

Niemann pick disease

The Indian Journal of Pediatrics, 1970
A case of Niemann Pick disease with a characteristic clinical picture and confirmatory bone marrow findings is reported. This is the third case report from India and the first case to be reported in a Mysorean child. In addition, the child also showed evidences of hemolytic anemia, the exact nature of which could not be confirmed.
I, Amla, G S, Gopalakrishna, N, Kannan
openaire   +2 more sources