Results 91 to 100 of about 2,350,820 (217)

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

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
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The Pick Knitwear Story, Book Two: 1956-1991

, 1991
An account of ]. PICK & SONS LTD LEICESTER Manufacturers for a hundred years.
Pick, J. B.
core  

Pfrieger's Digest Niemann-Pick Diseases Issue 13; January 2025-Apri 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.
Fw, Pfrieger
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A Case with Niemann-Pick Disease and Concomitant Kartagener’s SyndromeKartagener Sendromu’nun Eşlik Ettiği Bir Niemann-Pick Olgusu

, 2013
 Case ReportA Case with Niemann-Pick Disease and Concomitant Kartagener’s SyndromeMuzaffer Keklik 1 ,  Serdar Şıvgın 1 ,  Süleyman Baldane 2 ,  Afra Yıldırım 3 ,  Olgun Kontaş ...
Çetin, Mustafa, Keklik, Muzaffer
core   +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

111. Miglustat in Niemann-Pick disease type C (NPC)

, 2008
111.
Ed Wraith (15917000), Darleen Vecchio (15917003), Helena Prady (15917006), Marc Patterson (5636096), Larry Abel (13056207)   +4 more
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Pfrieger's Digest Niemann-Pick Diseases Issue 16; January 2026-April 2026

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  

Macular Cherry Red Spots in Niemann-Pick disease

, 1968
Macular cherry red spots in Niemann-Pick disease. Same patient as R2A2b. Anatomy: Retina. Pathology: Retinal ganglion cell accumulation of lipid. Disease/Diagnosis: Niemann-Pick disease.
William F. Hoyt, MD
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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