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PubPharm (102)
1
Natural history of three late-diagnosed classic Galactosemia patients
enthalten in:
Molecular genetics and metabolism reports
| 2024
von
Quelhas, D.
|
Kingma, S.
|
Jonckheere, A.
| +9
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2
Sulphur Amino Acids : How Important is it to Set Reference Ranges for Each Population?
enthalten in:
Endocrine, metabolic & immune disorders drug targets
| 2024
von
Araújo, H.
|
Florindo, C.
|
Gomes, A.
| +3
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3
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
enthalten in:
Frontiers in genetics
| 2024
von
Panis, B.
|
Vos, E.
|
Barić, I.
| +32
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4
Evaluation of Mitochondrial Function on Pyruvate Dehydrogenase Complex Deficient Patient-derived Cell Lines
enthalten in:
Endocrine, metabolic & immune disorders drug targets
| 2023
von
Pavlú-Pereira, H.
|
Florindo, C.
|
Carvalho, F.
| +4
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5
Clinical Trials on Advanced Therapy Investigational Medicinal Products in Spain (2004-2022) : Experience and Challenges for the Future
enthalten in:
Advances in experimental medicine and biology
| 2023
von
Estévez Álamo, J.
|
Timón, M.
|
Sánchez Afán de Rivera, I.
| +2
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6
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes
enthalten in:
ResearchSquare.com
| 2022
von
Pavlu-Pereira, H.
|
Silva, M.
|
Florindo, C.
| +14
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7
An efficient method for simultaneous species, individual, and sex identification via in-solution single nucleotide polymorphism capture from low-quality scat samples
enthalten in:
Molecular ecology resources
| 2022
von
Parker, L.
|
Campana, M.
|
Quinta, J.
| +8
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8
Genetic analyses are more sensitive than morphological inspection at detecting the presence of threatened Mojave desert tortoise ( Gopherus agassizii) remains in canid scat and raven pellets
enthalten in:
Conservation Science and Practice
| 2022
von
Parker, L.
|
Quinta, J.
|
Rivera, I.
| +7
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9
An efficient method for simultaneous species, individual, and sex identification via in‐solution single nucleotide polymorphism capture from low‐quality scat samples
enthalten in:
Molecular Ecology Resources
| 2022
von
Parker, L.
|
Campana, M.
|
Quinta, J.
| +8
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10
IVEN : A quantitative tool to describe 3D cell position and neighbourhood reveals architectural changes in FGF4-treated preimplantation embryos
enthalten in:
PLoS biology
| 2021
von
Forsyth, J.
|
Al-Anbaki, A.
|
de la Fuente, R.
| +6
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Medienart
102
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16
Journal of inherited metabolic disease
5
Clinical chemistry and laboratory medicine
5
Gene
4
European journal of pediatrics
4
Human mutation
4
Molecular genetics and metabolism
3
BMC medical ethics
3
Cell stress & chaperones
3
Journal of molecular medicine
3
Orphanet journal of rare diseases
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Atherosclerosis
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2
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2
PloS one
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Thema
48
Journal Article
24
Research Support, Non-U.S. Gov't
7
EC 1.2.4.1
7
Pyruvate Dehydrogenase (Lipoamide)
7
Pyruvate Dehydrogenase Complex
6
Galactosemia
5
Galactose
5
Pyruvate dehydrogenase complex deficiency
4
0LVT1QZ0BA
4
94ZLA3W45F
4
Arginine
4
Heat shock proteins
4
Homocysteine
4
Mutational analysis
4
Neurons
4
RNA, Messenger
3
7LP2MPO46S
3
9007-49-2
3
AdoHcy Hydrolase
3
AdoMet
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Erscheinungszeitraum
15
2020-
67
2010-2019
16
2000-2009
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