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1 . Academic Journal
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
저자
by
Mew, Nicholas Ah
;
Seminara, Jennifer
;
Burrage, Lindsay C.
;
Berry, Gerard T.
;
Breilyn, Margo
, et al.
소스
In
Genetics in Medicine
April 2024 26(4)
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7 . Academic Journal
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
저자
by
Accogli, Andrea
;
Lin, Sheng-Jia
;
Severino, Mariasavina
;
Kim, Sung-Hoon
;
Huang, Kevin
, et al.
소스
In
Genetics in Medicine
November 2023 25(11)
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7 . Academic Journal
Lysine Glutarylation Is a Protein Posttranslational Modification Regulated by SIRT5
저자
by
Tan, Minjia
;
Peng, Chao
;
Anderson, Kristin A.
;
Chhoy, Peter
;
Xie, Zhongyu
, et al.
소스
In
Cell Metabolism
1 April 2014 19(4):605-617
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7 . Academic Journal
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
저자
by
Boy, Nikolas
;
Mühlhausen, Chris
;
Maier, Esther M.
;
Ballhausen, Diana
;
Baumgartner, Matthias R.
, et al.
소스
Journal of Inherited Metabolic Disease; May2023, Vol. 46 Issue 3, p482-519, 38p
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7 . Academic Journal
Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium.
저자
by
Mütze, Ulrike
;
Gleich, Florian
;
Barić, Ivo
;
Baumgartner, Mathias
;
Burlina, Alberto
, et al.
소스
Journal of Inherited Metabolic Disease; Mar2023, Vol. 46 Issue 2, p220-231, 12p
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7 . Academic Journal
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.
저자
by
Grohmann‐Held, Karina
;
Burgard, Peter
;
Baerwald, Christoph G. O.
;
Beblo, Skadi
;
vom Dahl, Stephan
, et al.
소스
Journal of Inherited Metabolic Disease; Nov2022, Vol. 45 Issue 6, p1070-1081, 12p
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7 . Academic Journal
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
저자
by
Märtner, E. M. Charlotte
;
Thimm, Eva
;
Guder, Philipp
;
Schiergens, Katharina A.
;
Rutsch, Frank
, et al.
소스
Scientific Reports
. 10/12/2021, Vol. 11 Issue 1, p1-12. 12p.
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7 . Periodical
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
저자
by
Posset, Roland
;
Garbade, Sven F.
;
Gleich, Florian
;
Scharre, Svenja
;
Okun, Jürgen G.
, et al.
소스
Genetics in Medicine; April 2024, Vol. 26 Issue: 4
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7 . Academic Journal
Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies.
저자
by
Mazurkiewicz-Bełdzińska, Maria
;
del Toro, Mireia
;
Haliloğlu, Göknur
;
Huidekoper, Hidde H.
;
Kravljanac, Ružica
, et al.
소스
Expert Review of Neurotherapeutics; Nov 2021, Vol. 21 Issue 11, p1275-1282, 8p
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7 . Academic Journal
Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness.
저자
by
Mahler, Elisa A.
;
Johannsen, Jessika
;
Tsiakas, Konstantinos
;
Kloth, Katja
;
Lüttgen, Sabine
, et al.
소스
Deutsches Ärzteblatt International
(DTSCH AERZTEBL INT), 3/22/2019; 116(12): 197-VIII. (16p)
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