Results 71 to 80 of about 2,350,820 (217)

Niemann-pick disease type A-a case report [PDF]

, 2017
Niemann-Pick Disease is an autosomal recessive disorder of infancy, characterized by failure to thrive, hepatosplenomegaly and neurodegenerative changes. It is caused by inherited deficiency of an enzyme, acid sphingomyelinase.
Tangde, Ashwini, Pore, Shubhajyoti, Joshi, Anil, Anil Joshi, Ashwini Tangde, Bindu, Rajan, Rajan Bindu, Shubhajyoti Pore, Anjali Kulkarni, Kulkarni, Anjali   +9 more
core   +1 more source

Niemann - Pick Disease Type B: A Case Report

, 2018
Niemann-Pick disease is a rare lysosomal storage disease responsible for numerous cytological abnormalities involving liver, spleen, lymph nodes, nervous system, lungs and bone marrow.
Md Rukunuzzaman, ASM Bazlul Karim, Afsana Yasmin, Rubaiyat Alam   +3 more
core   +1 more source

AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease

Journal of Lipid Research, 2017
Niemann-Pick type C (NPC) disease is a fatal inherited neurodegenerative disorder caused by loss-of-function mutations in the NPC1 or NPC2 gene. There is no effective way to treat NPC disease.
Chang Xie, Xue-Min Gong, Jie Luo, Bo-Liang Li, Bao-Liang Song   +4 more
doaj   +1 more source

Response to two comments on “EHA Guidelines on management of chronic lymphocytic leukemia and Richter transformation” by S. Molica and A. Tedeschi: Beyond the binary choice

HemaSphere, Volume 10, Issue 10, October 2026.
Barbara Eichhorst, Paolo Ghia, Francesc Bosch, Ruth Clifford, Michael Gregor, Romain Guieze, Arnon P. Kater, Carsten U. Niemann, Sarka Pospisilova, Tadeusz Robak, Anna Schuh, Kostas Stamatopoulos, Tamar Tadmor, Nick York   +13 more
wiley   +1 more source

Promethean Parenting: the family of Niemann-Pick patients.

, 2010
The Niemann-Pick is an autosomal, recessive, rare and with a variable genomic imprinting disease. It involves three phenotypicalities (MNP-A, MNP-B, MNP-C) that differ by age of onset, symptoms and complexity of prognosis with a rather linear maintenance
ACQUARINI, ELENA
core   +1 more source

Pfrieger's Digest Niemann-Pick Diseases Issue 15; September 2025-December 2025

Summaries of latest research advances related to Niemann-Pick diseases, acid sphingomyelinase deficiency (ASMD) and Niemann-Pick type C disease (NPCD), based on selected peer-reviewed publications in scientific journals.Summaries of latest research ...
Fw, Pfrieger
core   +1 more source

Induced pluripotent stem cell models of lysosomal storage disorders

Disease Models & Mechanisms, 2017
Induced pluripotent stem cells (iPSCs) have provided new opportunities to explore the cell biology and pathophysiology of human diseases, and the lysosomal storage disorder research community has been quick to adopt this technology.
Daniel K. Borger, Benjamin McMahon, Tamanna Roshan Lal, Jenny Serra-Vinardell, Elma Aflaki, Ellen Sidransky   +5 more
doaj   +1 more source

Letter to the Editor Regarding Panvino et al. “Pharmacological Treatment of Cerebellar Ataxia in Pediatric Ataxia‐Telangiectasia: A Systematic Review”

European Journal of Neurology, Volume 33, Issue 10, October 2026.
Fabiola Panvino, Serena Galosi, Carlotta Spagnoli, Vincenzo Leuzzi, Francesco Pisani   +4 more
wiley   +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

Niemann-Pick Disease Type C

, 1989
The neurologic symptomatology in 22 patients with Niemann-Pick disease type C have been analyzed and reported from the Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health ...
J Gordon Millichap
core   +1 more source