Results 91 to 100 of about 21,027 (214)

Preinatal Types of Niemann-Pick disease type C

, 2015
How to Cite This Article:Alaei MR. Preinatal Types of Niemann-Pick disease type C. Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 12.Pls see Pdf.
ALAEI, Mohammad Reza
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Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.

BACKGROUND Niemann-Pick disease type C is a rare lysosomal storage disorder. We evaluated the safety and efficacy of N-acetyl-l-leucine (NALL), an agent that potentially ameliorates lysosomal and metabolic dysfunction, for the treatment of Niemann ...
Jones, Simon, Kay, Richard, Hahn, Andreas, Marquardt, Thorsten, Wibawa, Pierre, Sivananthan, Siyamini, Kolnikova, Miriam, Schneider, Susanne A, Gowing, Francesca, Mengel, Eugen, Martakis, Kyriakos, Walterfang, Mark, Arash-Kaps, Laila, Park, Julien H, Reichmannová, Stella, Ramaswami, Uma, Gissen, Paul, Strupp, Michael, Gautschi, Matthias, Bremova-Ertl, Tatiana, Brands, Marion, Foltan, Tomas   +21 more
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Postnatal BDNF-mediated cerebellar granule cell development is impaired in a mouse model of Niemann-Pick type C1 disease

, 2021
Niemann-Pick type C1 disease (NPCD) is a lysosomal storage disorder due to mutations in NPC1, a lysosomal protein related to the Sonic Hedgehog (Shh) receptor and involved in the intracellular trafficking of cholesterol.
Jessica Tiberi, Sonia Canterini, Maria Teresa Fiorenza, Serena Camuso, Alessandro Rava, Piergiorgio La Rosa   +5 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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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, PALMA, FULVIO, LINDA PALMA, PATRIZIA COLONNA, VALENTINA GIOVAGNOLI   +4 more
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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
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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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Vitamin E and Niemann–Pick Disease Type C

, 2015
How to Cite this Article: Rezayi AR. Vitamin E and Niemann–Pick Disease Type C. Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 23.Pls see Pdf.
REZAYI, Alireza
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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
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Niemann –Pick C Disease: Is It A Misnomenclature?

, 2015
How to Cite This Article: Ahmadabadi F. Niemann –Pick C Disease: Is It A Misnomenclature. Iran J Child Neurol.
AHMADABADI, Farzad
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