Results 101 to 110 of about 2,350,820 (217)

Lipid Storage Diseases- A Clinico-haematological Study

Journal of Rawalpindi Medical College, 2012
Background: To study the clinico- haematological profile of lipid storage disorders in pediatric age group on bone marrow examination. Methods: In this descriptive study, clinicohaematological profile of patients with lipid storage diseases in 1147 ...
Mahwash Rashid
doaj  

Enfermedad de Niemann-Pick [PDF]

, 2011
Enfermedades Raras en Asturias. Dirección General de Salud Pública y Participación. Informes breves 11Niemann-Pick is a hereditary disease in which accumulate sphingomyelin and lipids in the cells of different organs.Este proyecto ha sido financiado a
Paredes, Lucía, López, Juan Antonio, Margolles García, Pedro   +2 more
core  

'The role of ferroptosis in Niemann-Pick disease'

openLa malattia di Niemann-Pick di tipo C (NPCD) è una malattia genetica rara appartenente al gruppo di malattie da accumulo lisosomiale. Questa patologia è principalmente causata dalla mutazione del gene npc1 che codifica per una proteina della ...
MAIORINO, SOFIA
core  

Emotional wounds: NIEMANN – PICK DISEASE

, 2010
In 1914 the German pediatrician Albert Niemann described a Jewish child with damage to the brain and nervous system. Subsequently, in 1927, Ludwig Pick analyzed the tissues from deceased children and provided evidence of a new storage disease, not ...
F. PALMA, PALMA, FULVIO, LINDA PALMA, PATRIZIA COLONNA, VALENTINA GIOVAGNOLI   +4 more
core   +1 more source

NIEMANN-PICK DISEASE

Medicine, 1958
A C, CROCKER, S, FARBER
openaire   +2 more sources

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

Long-term miglustat therapy in children with niemann-pick disease type C

, 2010
Long-term miglustat therapy in children with niemann-pick disease type
MC Patterson (14464527), R Giorgino (13479904), D Vecchio (13425981), H Chadha-Boreham (13479898), JE Wraith (14464524), Larry Abel (13056207), E Jacklin (13479895), C Luzy (13479901)   +7 more
core  

Proteomic Signatures in Neuronal and Glial Cell Models of Niemann-Pick Disease Type C. [PDF]

J Am Soc Mass Spectrom
Wagner OC, Nguyen TTA, Javanshad R, Pathmasiri KC, Boktor S, Davy E, Li W, Cologna SM.   +7 more
europepmc   +1 more source

The Sphingolipid Balance and Endothelial Dysfunction in Lysosomal Storage Diseases: Shared Mechanisms in Gaucher, Niemann-Pick and Fabry Disease. [PDF]

Int J Mol Sci
Nekrasova A, Kutsev S, Shestopalov A.
europepmc   +1 more source