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/vufind/Search/Results?lookfor=%22Neuronopathic+Gaucher+disease%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
/vufind/Search/Results?lookfor=%22Neuronopathic+Gaucher+disease%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
Search /vufind/Search2/Results?lookfor=%22Neuronopathic+Gaucher+disease%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
PubPharm (53)
1
Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease
enthalten in:
Internal medicine (Tokyo, Japan)
| 2024
von
Yamaguchi-Takegami, N.
|
Takahashi, A.
|
Mitsui, J.
| +10
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2
Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan
enthalten in:
Orphanet journal of rare diseases
| 2024
von
Narita, A.
|
Koto, Y.
|
Noto, S.
| +5
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3
Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan
enthalten in:
Orphanet journal of rare diseases
| 2024
von
Narita, A.
|
Koto, Y.
|
Noto, S.
| +5
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4
Burden of caregivers of patients with neuronopathic and non-neuronopathic Gaucher disease in Japan : A survey-based study
enthalten in:
Molecular genetics and metabolism reports
| 2023
von
Koto, Y.
|
Narita, A.
|
Noto, S.
| +5
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5
A global neuronopathic gaucher disease registry (GARDIAN) : a patient-led initiative
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Collin-Histed, T.
|
Stoodley, M.
|
Beusterien, K.
| +5
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6
The D409H variant in GBA1 : Challenges in predicting the Gaucher phenotype in the newborn screening era
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Gleason, A.
|
D'Souza, A.
|
Ryan, E.
| +6
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7
iPSC-derived neural precursor cells engineering GBA1 recovers acid β-glucosidase deficiency and diminishes α-synuclein and neuropathology
enthalten in:
Molecular therapy. Methods & clinical development
| 2023
von
Peng, Y.
|
Liou, B.
|
Lin, Y.
| +3
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8
The spectrum of neurological manifestations and genotype-phenotype correlation in Indian children with Gaucher disease
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Venkatachari, M.
|
Chakraborty, S.
|
Correa, A.
| +9
ErratumIn: Am J Med Genet A. 2023 Jun 1;:. - PMID 37260296
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9
Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan
enthalten in:
Orphanet journal of rare diseases
| 2022
von
Koto, Y.
|
Narita, A.
|
Noto, S.
| +3
ErratumIn: Orphanet J Rare Dis. 2023 Mar 24;18(1):67. - PMID 36964591
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10
Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan
enthalten in:
Orphanet journal of rare diseases
| 2022
von
Koto, Y.
|
Narita, A.
|
Noto, S.
| +3
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Alle anzeigen ...
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Thema
22
Neuronopathic Gaucher disease
21
Journal Article
13
Gaucher disease
10
EC 3.2.1.45
10
Glucosylceramidase
9
neuronopathic Gaucher disease
8
610
8
Study Type: Interventional
7
Case Reports
6
Medical Condition: Neuronopathic Gaucher disease
5
Burden of disease
5
Enzyme replacement therapy
5
Neuronopathic gaucher disease
5
Patient reported outcome measures
4
Anemia
4
BMT
4
Enzyme replacement treatment
4
HSCT
4
Neurology
4
Outcomes
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Erscheinungszeitraum
35
2020-
16
2010-2019
2
2000-2009
Erscheinungsjahr(e)
Von:
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Sprache
51
Englisch
2
Unbestimmt
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