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PubPharm (139)
1
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease : a phase III open-label extension study (ATB200-07)
enthalten in:
Journal of neurology
| 2024
von
Schoser, B.
|
Kishnani, P.
|
Bratkovic, D.
| +81
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2
DHDDS and NUS1 : A Converging Pathway and Common Phenotype
enthalten in:
Movement disorders clinical practice
| 2024
von
Williams, L.
|
Waller, S.
|
Qiu, J.
| +9
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3
Fabry-specific treatment in Australia : time to align eligibility criteria with international best practices
enthalten in:
Internal medicine journal
| 2024
von
Nicholls, K.
|
Denaro, C.
|
Tchan, M.
| +5
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4
Informing a value care model : lessons from an integrated adult neurogenomics clinic
enthalten in:
Internal medicine journal
| 2023
von
McLean, A.
|
Tchan, M.
|
Devery, S.
| +6
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5
The management and clinical outcomes of pregnancies in women with urea cycle disorders : A review of the literature and results of an international survey
enthalten in:
Journal of inherited metabolic disease
| 2023
von
Stepien, K.
|
Langendonk, J.
|
Dao, M.
| +21
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6
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment : open-label extension of the ASCEND trial
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Wasserstein, M.
|
Lachmann, R.
|
Hollak, C.
| +18
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7
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Wasserstein, M.
|
Lachmann, R.
|
Hollak, C.
| +18
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8
The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses
enthalten in:
bioRxiv.org
| 2023
von
Rius, R.
|
Compton, A.
|
Baker, N.
| +64
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9
Seeing What Is Not There : Revisiting a Diagnostic Conundrum in the Clinic
enthalten in:
Movement disorders clinical practice
| 2023
von
Williams, L.
|
Qiu, J.
|
Tchan, M.
| +3
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10
NOTCH2NLC GGC Repeat Expansion Presenting as Adult-Onset Cervical Dystonia
enthalten in:
Movement disorders clinical practice
| 2023
von
Williams, L.
|
Qiu, J.
|
Ong, T.
| +9
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Medienart
139
Aufsätze
117
E-Artikel
117
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Zeitschriftentitel
14
Journal of inherited metabolic disease
12
Orphanet journal of rare diseases
7
Movement disorders clinical practice
6
Seminars in nephrology
5
JIMD reports
4
Genetics in medicine : official journal of the ...
4
Movement Disorders Clinical Practice
4
Reviews in endocrine & metabolic disorders
3
BMC nephrology
3
Brain : a journal of neurology
3
Circulation. Cardiovascular imaging
3
Nephrology
3
Nephrology (Carlton, Vic.)
3
Trials
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Genes
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Heart (British Cardiac Society)
2
Internal medicine journal
2
International journal of cardiology
2
Journal of cardiovascular magnetic resonance
2
Journal of the American Society of Echocardiogr...
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Thema
74
Journal Article
32
Research Support, Non-U.S. Gov't
18
Case Reports
11
Fabry disease
11
Review
10
Multicenter Study
6
Ammonia
5
Cardiomyopathy
5
Inborn error of metabolism
5
Randomized Controlled Trial
5
TRPP Cation Channels
4
Fabry
4
Lactate
4
Research Support, N.I.H., Extramural
4
polycystic kidney disease 1 protein
4
polycystic kidney disease 2 protein
4
pregnancy
3
Arrhythmia
3
Body Habitus
3
Cobalamin
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Erscheinungszeitraum
59
2020-
73
2010-2019
7
2000-2009
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