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PubPharm (37)
1
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes
enthalten in:
Molecular genetics and metabolism
| 2024
von
Goldstein, J.
|
Thomas-Wilson, A.
|
Groopman, E.
| +11
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2
MPS VI associated ocular phenotypes in an MPS VI murine model and the therapeutic effects of odiparcil treatment
enthalten in:
Molecular genetics and metabolism
| 2022
von
Entchev, E.
|
Antonelli, S.
|
Mauro, V.
| +10
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3
Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2-/- mouse model
enthalten in:
Molecular genetics and metabolism
| 2021
von
Gibson, R.
|
Lim, J.
|
Choi, S.
| +7
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4
A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females
enthalten in:
Molecular genetics and metabolism
| 2020
von
Stiles, A.
|
Zhang, H.
|
Dai, J.
| +7
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5
Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study
enthalten in:
Molecular genetics and metabolism
| 2020
von
Chen, A.
|
Harmatz, P.
|
Nestrasil, I.
| +12
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6
Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease
enthalten in:
Molecular genetics and metabolism
| 2020
von
Koeberl, D.
|
Case, L.
|
Desai, A.
| +7
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7
A straightforward, quantitative ultra-performance liquid chromatography-tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine : an improved clinical screening test for the mucopolysaccharidoses
enthalten in:
Molecular genetics and metabolism
| 2015
von
Zhang, H.
|
Wood, T.
|
Young, S.
| +1
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8
A straightforward, quantitative ultra-performance liquid chromatography-tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine: an improved clinical screening test for the mucopolysaccharidoses
enthalten in:
Molecular genetics and metabolism
| 2015
von
Zhang, H.
|
Wood, T.
|
Young, S.
| +1
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9
Consideration of increased dosing of alglucosidase alfa to achieve improved clinical outcomes in infantile Pompe disease
enthalten in:
Molecular genetics and metabolism
| 2015
von
Prater, S.
|
Sheets, K.
|
Young, S.
| +3
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10
Pilot study of adjunctive albuterol in late-onset Pompe disease reveals safety and efficacy from upregulated Mannose-6-phosphate receptor expression
enthalten in:
Molecular genetics and metabolism
| 2014
von
Koeberl, D.
|
Austin, S.
|
Case, L.
| +5
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Zeitschrift: Molecular genetics and metabolism
Medienart
37
Aufsätze
23
Gedruckte Aufsätze
14
E-Artikel
14
E-Ressourcen
Zeitschriftentitel
Molecular genetics and metabolism
Thema
14
Journal Article
8
Research Support, Non-U.S. Gov't
4
Biomarkers
3
Case Reports
3
EC 3.2.1.20
3
Recombinant Proteins
3
Research Support, N.I.H., Extramural
3
alpha-Glucosidases
2
24967-94-0
2
9005-79-2
2
9050-30-0
2
AYI8EX34EU
2
Creatine
2
Creatinine
2
Dermatan Sulfate
2
EC 3.2.1.22
2
GAA protein, human
2
Glycogen
2
Glycosaminoglycans
2
Heparitin Sulfate
Alle anzeigen ...
weniger ...
Erscheinungszeitraum
6
2020-
21
2010-2019
10
2000-2009
Erscheinungsjahr(e)
Von:
Bis:
Sprache
17
Englisch
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