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/vufind/Search/Results?lookfor=%22Tyrosinemia+type+I%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
/vufind/Search/Results?lookfor=%22Tyrosinemia+type+I%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
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PubPharm (172)
1
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years : Experience from a German Newborn Screening Center
enthalten in:
International journal of neonatal screening
| 2024
von
Gramer, G.
|
Wortmann, S.
|
Fang-Hoffmann, J.
| +5
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2
An engineered Escherichia coli Nissle strain prevents lethal liver injury in a mouse model of tyrosinemia type 1
enthalten in:
Journal of hepatology
| 2024
von
Gu, P.
|
Xie, L.
|
Chen, T.
| +10
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3
A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review : A Rare Cause of Acute Liver Failure in Childhood
enthalten in:
Medicina (Kaunas, Lithuania)
| 2024
von
Rokaitė, R.
|
Čibirkaitė, A.
|
Zeleckytė, V.
| +2
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4
Clinical Spectrum of Hereditary Tyrosinemia Type 1 in a Cohort of Pakistani Children
enthalten in:
Clinical medicine insights. Pediatrics
| 2024
von
Khan, S.
|
Fakih, M.
|
Taufiq, N.
| +3
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5
A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood
in:
Medicina
| 2024
von
Rūta Rokaitė
|
Agnė Čibirkaitė
|
Vykinta Zeleckytė
| +2
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6
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center
in:
International Journal of Neonatal Screening
| 2024
von
Gwendolyn Gramer
|
Saskia B. Wortmann
|
Junmin Fang-Hoffmann
| +5
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7
The effects of phenylalanine and tyrosine levels on dopamine production in rat PC12 cells. Implications for treatment of phenylketonuria, tyrosinemia type 1 and comorbid neurodevelopmental disorders
enthalten in:
Neurochemistry international
| 2023
von
Szigetvari, P.
|
Patil, S.
|
Birkeland, E.
| +2
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8
A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone
enthalten in:
International journal of neonatal screening
| 2023
von
Dijkstra, A.
|
Evers-van Vliet, K.
|
Heiner-Fokkema, M.
| +7
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9
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1
enthalten in:
Journal of inherited metabolic disease
| 2023
von
van Vliet, K.
|
Dijkstra, A.
|
Bouva, M.
| +15
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10
Prolonged activity of the transposase helper may raise safety concerns during DNA transposon-based gene therapy
enthalten in:
Molecular therapy. Methods & clinical development
| 2023
von
Imre, G.
|
Takács, B.
|
Czipa, E.
| +23
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Thema
79
Journal Article
37
Tyrosinemia type 1
33
nitisinone
29
Tyrosine
27
NTBC
25
Nitisinone
24
tyrosinemia type 1
23
Cyclohexanones
23
Nitrobenzoates
23
Research Support, Non-U.S. Gov't
22
K5BN214699
20
610
19
42HK56048U
19
succinylacetone
18
EC 3.-
18
EC 3.7.1.2
18
Hydrolases
18
Study Type: Interventional
18
Tyrosinemia type I
18
fumarylacetoacetase
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Erscheinungszeitraum
76
2020-
93
2010-2019
3
2000-2009
Erscheinungsjahr(e)
Von:
Bis:
Sprache
165
Englisch
4
Deutsch
3
Türkisch
1
Chinesisch
1
Spanisch
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