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1 . Academic Journal
Inborn Errors of Ketone Body Metabolism and Transport: An Update for the Clinic and for Clinical Laboratories
저자
by
Sass, Jörn Oliver
;
Fukao, Toshiyuki
;
Mitchell, Grant A.
.
소스
Journal of Inborn Errors of Metabolism and Screening
. January 2018 6
Open Access (SciELO)
Scopus
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5 . Academic Journal
Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-MethylglutarylCoenzyme A Lyase Deficiency: An Artefact in the Analysis of Urinary Organic Acids
저자
by
Sass, Jörn Oliver
;
Fernando, Malkanthi
;
Behringer, Sidney
.
소스
Journal of Inborn Errors of Metabolism and Screening
. January 2018 6
Open Access (SciELO)
Scopus
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5 . Academic Journal
N-Acetylglutamate and N-acetylmethionine compromise mitochondrial bioenergetics homeostasis and glutamate oxidation in brain of developing rats: Potential implications for the pathogenesis of ACY1 deficiency
저자
by
Bortoluzzi, Vanessa Trindade
;
Ribeiro, Rafael Teixeira
;
Pinheiro, Camila Vieira
;
Castro, Ediandra Tissot
;
Tavares, Tailine Quevedo
, et al.
소스
In
Biochemical and Biophysical Research Communications
3 December 2023 684
Full Text (ScienceDirect)
Web of Science
Scopus
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7 . Academic Journal
Disturbance of mitochondrial functions caused by N-acetylglutamate and N-acetylmethionine in brain of adolescent rats: Potential relevance in aminoacylase 1 deficiency
저자
by
Bortoluzzi, Vanessa Trindade
;
Ribeiro, Rafael Teixeira
;
Zemniaçak, Ângela Beatris
;
Cunha, Sâmela de Azevedo
;
Sass, Jörn Oliver
, et al.
소스
In
Neurochemistry International
December 2023 171
Full Text (ScienceDirect)
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7 . Academic Journal
The glycine N-acyltransferases, GLYAT and GLYATL1, contribute to the detoxification of isovaleryl-CoA - an in-silico and in vitro validation
저자
by
Kühn, Stefan
;
Williams, Monray E.
;
Dercksen, Marli
;
Sass, Jörn Oliver
;
van der Sluis, Rencia
.
소스
In
Computational and Structural Biotechnology Journal
2023 21:1236-1248
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7 . Academic Journal
Prolonged survival upon ultrasound-enhanced doxorubicin delivery in two syngenic glioblastoma mouse models
저자
by
Kovacs, Zsofia
;
Werner, Beat
;
Rassi, Anahita
;
Sass, Jörn Oliver
;
Martin-Fiori, Ernst
, et al.
소스
In
Journal of Controlled Release
10 August 2014 187:74-82
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7 . Academic Journal
Two inborn errors of metabolism in a newborn: Glutaric aciduria type I combined with isobutyrylglycinuria
저자
by
Popek, Manuela
;
Walter, Melanie
;
Fernando, Malkanthi
;
Lindner, Martin
;
Schwab, Karl Otfried
, et al.
소스
In
Clinica Chimica Acta
2010 411(23):2087-2091
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7 . Academic Journal
Screening for hypophosphatasia: does biochemistry lead the way?
저자
by
Held, Corinna Melanie
;
Guebelin, Anic
;
Krebs, Andreas
;
Sass, Jörn Oliver
;
Wurm, Michael
, et al.
소스
Journal of Pediatric Endocrinology and Metabolism
. 35(2):169-178
Full Text(De Gruyter)
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7 . Academic Journal
3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS/MS method.
저자
by
Sasarman, Florin
;
Ferdinandusse, Sacha
;
Sinasac, David S.
;
Fung, Ernest
;
Sparkes, Rebecca
, et al.
소스
Journal of Inherited Metabolic Disease; May2022, Vol. 45 Issue 3, p445-455, 11p
Web of Science
Scopus
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7 . Academic Journal
The peak height ratio of S-sulfonated transthyretin and other oxidized isoforms as a marker for molybdenum cofactor deficiency, measured by electrospray ionization mass spectrometry
저자
by
Kishikawa, Masahiko
;
Sass, Jörn Oliver
;
Sakura, Nobuo
;
Nakanishi, Toyofumi
;
Shimizu, Akira
, et al.
소스
In
BBA - Molecular Basis of Disease
2002 1588(2):135-138
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