Results 161 to 170 of about 21,027 (214)

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

How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears. [PDF]

Hemasphere
Girard S, Pettazzoni M, Froissart R, Pagan C, Boyer T, Dulucq S, Gonçalves Monteiro V, Lechevalier N, Loosveld M, Lours C, Mayeur-Rousse C, Pannetier M, Peillon C, Rosenthal MA, Sep Hieng S, Trichet C, Baseggio L, on behalf the French‐Speaking Cellular Haematology Group (GFHC).   +17 more
europepmc   +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

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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

Type A Niemann–Pick disease

Journal of the European Academy of Dermatology and Venereology, 2000
AbstractNiemann–Pick disease (NPD) represents a type of lysosomal storage diseases in which sphingomyelin accumulates in the histocytes and reticuloendothelial cells of the spleen, liver, lymph nodes, bone marrow and central nervous system. We report a child with massive hepatosplenomegaly, lymphadenopathy, mental retardation and widespread ...
A A, Raddadi, A A, Al Twaim
openaire   +2 more sources