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journalStr:"Journal of inherited metabolic disease"
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PubPharm (23)
1
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases
enthalten in:
Journal of inherited metabolic disease
| 2019
von
Posset, R.
|
Garbade, S.
|
Boy, N.
| +68
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2
Correction to : Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
enthalten in:
Journal of inherited metabolic disease
| 2018
von
Posset, R.
|
Garcia-Cazorla, A.
|
Valayannopoulos, V.
| +54
ErratumFor: J Inherit Metab Dis. 2016 Sep;39(5):661-672. - PMID 27106216
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3
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1 : the initial presentation
enthalten in:
Journal of inherited metabolic disease
| 2015
von
Kölker, S.
|
Garcia-Cazorla, A.
|
Cazorla, A.
| +53
ErratumIn: J Inherit Metab Dis. 2015 Nov;38(6):1155-6 Cazorla, Angeles Garcia [corrected to Garcia-Cazorla, Angeles]. - PMID 26077420
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4
Erratum to : The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
enthalten in:
Journal of inherited metabolic disease
| 2015
von
Kölker, S.
|
Cazorla, A.
|
Valayannopoulos, V.
| +52
ErratumFor: J Inherit Metab Dis. 2015 Nov;38(6):1041-57 Cazorla, Angeles Garcia [corrected to Garcia-Cazorla, Angeles]. - PMID 25875215
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5
Erratum to : The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
enthalten in:
Journal of inherited metabolic disease
| 2015
von
Kölker, S.
|
Valayannopoulos, V.
|
Burlina, A.
| +55
ErratumFor: J Inherit Metab Dis. 2015 Nov;38(6):1059-74 Garcia Cazorla, Angeles [corrected to Garcia-Cazorla, Angeles]. - PMID 25875216
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6
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2 : the evolving clinical phenotype
enthalten in:
Journal of inherited metabolic disease
| 2015
von
Kölker, S.
|
Valayannopoulos, V.
|
Burlina, A.
| +56
ErratumIn: J Inherit Metab Dis. 2015 Nov;38(6):1157-8 Garcia Cazorla, Angeles [corrected to Garcia-Cazorla, Angeles]. - PMID 26077421
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7
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
enthalten in:
Journal of inherited metabolic disease
| 2015
von
Kölker, S.
|
Valayannopoulos, V.
|
Burlina, A.
| +55
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8
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
enthalten in:
Journal of inherited metabolic disease
| 2015
von
Kölker, S.
|
Cazorla, A.
|
Valayannopoulos, V.
| +52
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9
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
enthalten in:
Journal of inherited metabolic disease
| 2015
von
Kölker, S.
|
Cazorla, A.
|
Valayannopoulos, V.
| +52
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10
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
enthalten in:
Journal of inherited metabolic disease
| 2015
von
Kölker, S.
|
Valayannopoulos, V.
|
Burlina, A.
| +55
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Zeitschrift: Journal of inherited metabolic disease
Medienart
23
Aufsätze
18
E-Artikel
18
E-Ressourcen
5
Gedruckte Aufsätze
Zeitschriftentitel
Journal of inherited metabolic disease
Thema
9
Urea Cycle Disorder
5
Journal Article
4
Research Support, Non-U.S. Gov't
3
Advance Therapy Medicinal Product
3
Chronic Renal Failure
3
Glycogen Storage Disease
3
Metabolic Crisis
3
Movement Disorder
3
Newborn Period
3
Newborn Screening
3
Optic Nerve Atrophy
3
Phenylalanine Level
3
Propionic Aciduria
3
Published Erratum
3
Recipient Liver
3
Standard Deviation Score
2
EC 1.3.8.6
2
Glutaryl-CoA Dehydrogenase
1
42HK56048U
1
8W8T17847W
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Erscheinungszeitraum
1
2019
1
2018
16
2015
4
2014
1
2012
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Erscheinungsjahr(e)
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Sprache
23
Englisch
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