Results 81 to 90 of about 2,242,884 (206)

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

, 2014
Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological deterioration and premature death, and has an estimated birth incidence of 1:120,000.
簡穎秀, Walterfang, Mark;Chien, Yin-Hsiu;Imrie, Jackie;Rushton, Derren;Schubiger, Danielle;Patterson, Marc C.   +1 more
core   +1 more source

Pfrieger's Digest Niemann-Pick Diseases Issue 14; May 2025-August 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

Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene. [PDF]

Med J Islam Repub Iran, 2019
Zahedi Abghari F, Bayat F, Razipour M, Karimipoor M, Taghavi-Basmenj M, Zeinali S, Davoudi-Dehaghani E.   +6 more
europepmc   +1 more source

Broken Balance: Emerging Cross-Talk Between Proteostasis and Lipostasis in Neurodegenerative Diseases

Cells
Neurodegenerative diseases, including Alzheimer’s disease and Parkinson’s disease, are characterized by progressive neuronal loss, leading to cognitive and motor impairments.
Jessica Tittelmeier, Carmen Nussbaum-Krammer   +1 more
doaj   +1 more source

Pfrieger's Digest Niemann-Pick Diseases Issue 11; March 2024-July 2024

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.
Fw, Pfrieger
core   +1 more source

Pfrieger's Digest Niemann-Pick Diseases Issue 12; August 2024-December 2024

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.
Fw, Pfrieger
core   +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

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  

Pfrieger's Digest Niemann-Pick Diseases Issue 10; October 2023-February 2024

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.
Fw, Pfrieger
core   +1 more source

NIEMANN-PICK DISEASE

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