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PubPharm (9)
1
Time to harmonize mitochondrial syndrome nomenclature and classification : A consensus from the North American Mitochondrial Disease Consortium (NAMDC)
enthalten in:
Molecular genetics and metabolism
| 2022
von
Emmanuele, V.
|
Ganesh, J.
|
Vladutiu, G.
| +14
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2
Late-onset Pompe disease with atypical presentation: What else is going on?
enthalten in:
Molecular genetics and metabolism
| 2017
von
Ganesh, J.
|
Scarano, M.
|
Hardiman, M.
| +1
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3
Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis
enthalten in:
Molecular genetics and metabolism
| 2011
von
Wang, G.
|
Wang, J.
|
Douglas, G.
| +8
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4
Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis
enthalten in:
Molecular genetics and metabolism
| 2011
von
Wang, G.
|
Wang, J.
|
Douglas, G.
| +8
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5
Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency
enthalten in:
Molecular genetics and metabolism
| 2010
von
Coughlin, C.
|
Krantz, I.
|
Schmitt, E.
| +4
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6
Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency
enthalten in:
Molecular genetics and metabolism
| 2010
von
Coughlin, C.
|
Krantz, I.
|
Schmitt, E.
| +4
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7
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase : a role for detailed molecular analysis in complex presentations of classical diseases
enthalten in:
Molecular genetics and metabolism
| 2008
von
Deardorff, M.
|
Gaddipati, H.
|
Kaplan, P.
| +11
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8
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: A role for detailed molecular analysis in complex presentations of classical diseases
enthalten in:
Molecular genetics and metabolism
| 2008
von
Deardorff, M.
|
Gaddipati, H.
|
Kaplan, P.
| +11
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9
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: A role for detailed molecular analysis in complex presentations of classical diseases
enthalten in:
Molecular genetics and metabolism
| 2008
von
Deardorff, M.
|
Gaddipati, H.
|
Kaplan, P.
| +11
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1
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Zeitschrift: Molecular genetics and metabolism
Medienart
9
Aufsätze
5
Gedruckte Aufsätze
4
E-Artikel
4
E-Ressourcen
Zeitschriftentitel
Molecular genetics and metabolism
Thema
4
Journal Article
2
Case Reports
1
Carnitine
1
Carnitine Acyltransferases
1
EC 1.2.4.1
1
EC 2.1.3.3
1
EC 2.3.1.
1
EC 2.3.1.-
1
Membrane Transport Proteins
1
Mitochondrial DNA
1
Mitochondrial disease
1
Mitochondrial disorders
1
Ornithine Carbamoyltransferase
1
Oxidative-phosphorylation
1
Pyruvate Dehydrogenase (Lipoamide)
1
Research Support, N.I.H., Extramural
1
Research Support, Non-U.S. Gov't
1
Research Support, U.S. Gov't, P.H.S.
1
Review
1
S7UI8SM58A
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Erscheinungszeitraum
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2020-
5
2010-2019
3
2000-2009
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5
Englisch
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