[PDF] Top 20 Un marco para la innovación del proyecto educativo de los museos de ciencia
Has 10000 "Un marco para la innovación del proyecto educativo de los museos de ciencia" found on our website. Below are the top 20 most common "Un marco para la innovación del proyecto educativo de los museos de ciencia".
Miglustat in Niemann-Pick disease type C patients: a review
... of miglustat therapy, as well as a slowing of reductions in fractional anisotropy (an axonal/myelin integrity ...of miglustat on cerebellar and subcortical structure that correlated with clinical symptom ... See full document
15
Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review
... all patients included in the ...diagnosis, miglustat treatment initiation, last con- tact, and death were ...of miglustat treatment on the disease progression ... See full document
9
Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat
... male patients with juvenile-onset NP-C who com- pleted 1 year of miglustat therapy, dosed according to body surface ...to miglustat therapy ... See full document
36
New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
... pediatric patients, and represents the first specific treatment for ...we review current data on the pharmacology, efficacy, safety and tolerability of miglustat in patients with NP-C, ... See full document
8
Niemann-Pick disease type C
... symptomatic patients, first in adolescents and adults (12 years and above) [114], then in children (4-12 ...adult patients [116] (reviewed in [27]). Overall, the disease course stabilized in 72% of ... See full document
6
Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis
... descriptive review of compassionate use data in 12 patients does have limitations by virtue of its ...Our review is a descriptive analysis and was not de- signed as a clinical ...to patients ... See full document
9
Niemann-Pick disease type C symptomatology: an expert-based clinical description
... the disease may be under-diagnosed due to its highly heterogeneous ...the disease and that can be found in other conditions. The aim of this review is to provide non-specialists with an expert-based, ... See full document
12
A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1
... was weighed. Lipids were extracted according to Bligh and Dyer [34], with slight modifications. Chloroform (Merck KGaA, Darmstadt, Germany), methanol (Merck KGaA, Darmstadt, Germany) and hydrochloric acid (Merck KGaA, ... See full document
55
Consensus clinical management guidelines for Niemann-Pick disease type C
... the disease and determines life expectancy [11]. Disease classifications based on the age of onset of the first (beyond 3 months of life) neurological symptom may be used to guide clinicians in providing ... See full document
79
Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease
... rare disease advancement is the de- velopment of clinical trials to test potential therapies, lim- ited availability of affected patients often imposes significant constraints that require international ... See full document
19
The Palliative Use of Intrathecal Baclofen in Niemann-Pick Disease Type C
... other patients with her son’s condition are able to also bene fi t from intrathecal baclofen therapy to improve their comfort level and thus their quality of ... See full document
13
Atypical multisensory integration in Niemann Pick type C disease towards potential biomarkers
... Participant 1 is a 14 year 8 month old adolescent boy, who was evaluated 3 months after his participation in our behavioral study. He was diagnosed with NPC in 2005 and is currently on the following medications: Zavesca ... See full document
5
Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C
... Two patients developed a psychosis early in disease and also cognitive deficits were among the early ...symptoms. Patients in our sample showed cognitive deficits in all domains investi- gated, in ... See full document
172
Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients
... Niemann-Pick disease type C (NP-C, OMIM 257220, 607625) is a rare autosomal recessive disease belonging to the family of lysosomal storage ...NP-C patients ... See full document
16
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators
... patients of German and Swiss origin, to date the most comprehensive survey on NP-C in these countries. We confirm many of the findings in other cohorts [8,9,12-18], among them a delay of several years from ... See full document
10
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials
... of patients over three time pe- riods (up to 2 years, 2–4 years and 4–6 years) ...for patients without seizures using first or mean ASIS scores ...on patients with seizures ... See full document
9
Subcortical Volumetric Reductions in Adult Niemann Pick Disease Type C: A Cross Sectional Study
... cerebellar and basal ganglia pathology may thus underpin the high rate of dystonia in adult patients with NPC. The vertex anal- ysis of the caudate showed that dorsolateral regions were partic- ularly affected; ... See full document
31
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
... the disease, specific- ally in parents or siblings, which alone is sufficient for high suspicion of NP-C in patients with unclear med- ical ...the disease [1]. These symptoms distinguished ... See full document
17
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C
... on miglustat treatment state that a confirmed NPC diagnosis should not be taken as the only indication for immediate miglustat therapy, since neurological, psychiatric and/or cognitive manifestations can ... See full document
158
Use of miglustat in a child with late infantile onset Niemann Pick disease type C and frequent seizures: a case report
... presentation: Niemann-Pick disease type C homozygous for NPC1 mutation ...2819 C>T] was diagnosed in a four-and-a-half-year-old Norwegian Caucasian ...of miglustat ... See full document
10
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