Results 81 to 90 of about 14,555 (206)
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 +4 more
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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 +4 more
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Die Schweizer Fälle von Splenohepatomegalie (Niemann-Pick) Ein Beitrag zur genetischen Abgrenzung der Phospatid-Lipoidosen [PDF]
, 1956 In this paper a counterpart is given to the data of our investigation about the incidence ofinfantile amaurotic idiocy(Tay-Sachs) in Switzerland, published here in 1954. The term «the-saurismose» is rather unclear and had to be critisised byLetterer. The
Hanhart, E
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Neural Regeneration ResearchAlzheimer’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 +8 more
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'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
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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
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Niemann Pick Tip C Hastalarında Yutma ve Vestibülokoklear Fonksiyon Değerlendirmesi
, 2014 Niemann-Pick Disease (NPD) is an inherited metabolic disorder, part of lysosomal storage diseases spectrum. Since early 1980’s the “Niemann-Pick Disease” group of disorders has been divided into two distinct entities: (1) acid sphingomiyelinase ...
Taga Senirli, Rezarta
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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
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, 2018 El objetivo de la presente investigación fue identificar el perfil neurocognitivo y realizar un rastreo emocional de pacientes con diagnóstico de la enfermedad de Niemann Pick tipo C (NP-C) identificados en Colombia.
Arias Valencia, Jhon Felipe +1 more
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