Results 81 to 90 of about 2,350,820 (217)
NPD TYPE C — WAY TO THE EFFECTIVE THERAPY THROUGH TIMELY DIAGNOSIS
Педиатрическая фармакология, 2011 In recent years in expanding diagnostic capabilities and improved knowledge level diseases that were previously considered rare become increasingly identified.
L.S. Namazova-Baranova +5 more
doaj +2 more sources
Miglustat in Niemann-Pick disease type c (NPC)
, 2008 Miglustat in Niemann-Pick disease type c ...
Ed Wraith (15917000) +4 more
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A corresponding Niemann-Pick mutation inactivates RsASML.
, 2014 RsASML activity of WT and H280R proteins towards pNPPC. The H280R substitution in RsASML corresponds to the H427R mutation in aSMase found in a subset of Niemann-Pick Type A patients.
Michael V. Airola (281288) +3 more
core +1 more source
Eye Movements in Niemann Pick C Disease
, 2008 Many neurodegenerative diseases have characteristic eye movement abnormalities, including Niemann Pick C, Gaucher disease type 3, and PSP Since eye movements are easily quantifiable, could they serve as a measure of disease progression and help to ...
Edmond FitzGibbon
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Risk Prediction for Niemann-Pick Disease
, 2012 A retrospective chart review of 216 patients with Niemann-Pick disease type C (NP-C) was conducted in 5 centers in Europe including University of Amsterdam and 2 in ...
J Gordon Millichap
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DiagnosticsThe liver, given its role as the central metabolic organ, is involved in many inherited metabolic disorders, including lysosomal storage diseases (LSDs).
Patryk Lipiński, Anna Tylki-Szymańska
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Analysis of Genetic Variation of rs1542705 Marker in SMPD1 Gene Region as an Informative Marker for Molecular Diagnosis of Niemann-Pick Disease in Isfahan Population [PDF]
Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2016 Background: Niemann-Pick disease (NPD) refers to a group of lysosomal storage diseases that causes abnormal metabolism of lipids. One of the genes that play a role in the pathogenesis of this disease is SMPD1.
Nasim Ebrahimi, Sadegh Vallian Borujeni
doaj
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
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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
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The Pick Knitwear Story: 1856-1956
, 1956 An account of ]. PICK & SONS LTD LEICESTER Manufacturers for a hundred years.
Pick, J. B.
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