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/vufind/Search/Results?lookfor=%22Organic+aciduria%22&type=Subject&filter%5B%5D=topic_facet%3A%22Research+Support%2C+Non-U.S.+Gov%27t%22
/vufind/Search/Results?lookfor=%22Organic+aciduria%22&type=Subject&filter%5B%5D=topic_facet%3A%22Research+Support%2C+Non-U.S.+Gov%27t%22
Search /vufind/Search2/Results?lookfor=%22Organic+aciduria%22&type=Subject&filter%5B%5D=topic_facet%3A%22Research+Support%2C+Non-U.S.+Gov%27t%22
PubPharm (18)
1
Kidney urinary biomarkers in patients with branched-chain amino acid and cobalamin metabolism defects
enthalten in:
Journal of inherited metabolic disease
| 2023
von
Köpfer, F.
|
Garbade, S.
|
Klingbeil, K.
| +7
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2
The impact of liver transplantation on health-related quality of life in (acute) intoxication-type inborn errors of metabolism
enthalten in:
Journal of inherited metabolic disease
| 2023
von
Greco, B.
|
Caviglia, S.
|
Martinelli, D.
| +10
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3
How guideline development has informed clinical research for organic acidurias (et vice versa)
enthalten in:
Journal of inherited metabolic disease
| 2023
von
Forny, P.
|
Hörster, F.
|
Baumgartner, M.
| +2
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4
The complex machinery of human cobalamin metabolism
enthalten in:
Journal of inherited metabolic disease
| 2023
von
McCorvie, T.
|
Ferreira, D.
|
Yue, W.
| +1
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5
Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism : an international Delphi-based consensus
enthalten in:
Orphanet journal of rare diseases
| 2022
von
Bösch, F.
|
Zeltner, N.
|
Baumgartner, M.
| +2
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6
A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I
enthalten in:
Molecular genetics and metabolism
| 2021
von
Gonzalez Melo, M.
|
Fontana, A.
|
Viertl, D.
| +11
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7
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery
enthalten in:
Molecular genetics and metabolism
| 2021
von
Gonzalez Melo, M.
|
Remacle, N.
|
Cudré-Cung, H.
| +14
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8
Organic acidurias : Major gaps, new challenges, and a yet unfulfilled promise
enthalten in:
Journal of inherited metabolic disease
| 2021
von
Dimitrov, B.
|
Molema, F.
|
Williams, M.
| +5
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9
Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism : Analysis of an international data set
enthalten in:
Journal of inherited metabolic disease
| 2021
von
Bösch, F.
|
Landolt, M.
|
Baumgartner, M.
| +12
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10
Disruption of mitochondrial functions and oxidative stress contribute to neurologic dysfunction in organic acidurias
enthalten in:
Archives of biochemistry and biophysics
| 2020
von
Wajner, M.
|
Vargas, C.
|
Amaral, A.
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Thema: Research Support, Non-U.S. Gov't
Medienart
18
Aufsätze
18
E-Artikel
18
E-Ressourcen
Zeitschriftentitel
7
Journal of inherited metabolic disease
5
Orphanet journal of rare diseases
3
Molecular genetics and metabolism
2
Archives of biochemistry and biophysics
1
Cells
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Thema
18
Journal Article
Research Support, Non-U.S. Gov't
5
organic acidurias
4
Organic acidurias
4
Review
4
organic aciduria
3
Acetyl-CoA C-Acetyltransferase
3
EC 2.3.1.9
3
Hyperammonemia
3
Organic aciduria
2
5L0HB4V1EW
2
7664-41-7
2
Ammonia
2
Carglumic acid
2
EC 1.3.8.6
2
Glutamates
2
Glutaric aciduria type I
2
Glutaryl-CoA Dehydrogenase
2
Hyperammonaemia
2
Inborn error of metabolism
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Erscheinungszeitraum
13
2020-
5
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
18
Englisch
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