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- amino acid metabolism, inborn errors (27)
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- amino acid metabolism, inborn errors (27)
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- Science Citation Index Expanded (89)
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PsycINFO

전체선택

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

학술저널

issue: In Biochemical and Biophysical Research Communications 3 December 2023 684
Author: Bortoluzzi, Vanessa Trindade
Ribeiro, Rafael Teixeira
Pinheiro, Camila Vieira
Castro, Ediandra Tissot
Tavares, Tailine Quevedo
Leipnitz, Guilhian
Sass, Jörn Oliver
Castilho, Roger Frigério
Amaral, Alexandre Umpierrez
Wajner, Moacir
DB Label: Database : ScienceDirect

원문보기: Full Text (ScienceDirect) 조회 - Impact Factor (JCR) 등재 - Web of Science (SCIE) 등재 - SCOPUS 원문복사신청 - FRIC

Disturbance of mitochondrial functions caused by N-acetylglutamate and N-acetylmethionine in brain of adolescent rats: Potential relevance in aminoacylase 1 deficiency

학술저널

issue: In Neurochemistry International December 2023 171
Author: Bortoluzzi, Vanessa Trindade
Ribeiro, Rafael Teixeira
Zemniaçak, Ângela Beatris
Cunha, Sâmela de Azevedo
Sass, Jörn Oliver
Castilho, Roger Frigério
Amaral, Alexandre Umpierrez
Wajner, Moacir
DB Label: Database : ScienceDirect

원문보기: Full Text (ScienceDirect) 조회 - Impact Factor (JCR) 등재 - Web of Science (SCIE) 등재 - SCOPUS

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

학술저널

issue: JOURNAL OF INHERITED METABOLIC DISEASE; APR 16 2024, 26p.
Author: Schwahn, Bernd
van Spronsen, Francjan
Misko, Albert
Pavaine, Julija
Holmes, Victoria
Spiegel, Ronen
Schwarz, Guenter
Wong, Flora
Horman, Alistair
Pitt, James
Sass, Joern Oliver
Lubout, Charlotte
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (Wiley-DB) 조회 - Impact Factor (JCR) 등재 - Web of Science 등재 - SCOPUS 원문복사신청 - RISS

Disorders of Ketone Body Metabolism and Transport

전자책

issue: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. :967-980
Author: Sass, Jörn Oliver^Aff6
Grünert, Sarah C.^Aff7
DB Label: Database : Springer Nature eBooks

원문보기

The glycine N-acyltransferases, GLYAT and GLYATL1, contribute to the detoxification of isovaleryl-CoA - an in-silico and in vitro validation

학술저널

issue: In Computational and Structural Biotechnology Journal 2023 21:1236-1248
Author: Kühn, Stefan
Williams, Monray E.
Dercksen, Marli
Sass, Jörn Oliver
van der Sluis, Rencia
DB Label: Database : ScienceDirect

원문보기: Full Text (ScienceDirect O/A) 조회 - Impact Factor (JCR) 등재 - Web of Science (SCIE) 등재 - SCOPUS

Correction to: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces

학술저널

issue: Orphanet Journal of Rare Diseases. 17(1)
Author: Grünert, Sarah C.^{Aff1, IDs1302302102154z_cor1}
Sass, Jörn Oliver^{Aff2, IDs1302302102154z_cor2}
DB Label: Database : Springer Nature Journals

원문보기: Full Text (원문보기) Full Text (원문보기) OA (Springer) Open Access (BioMed Central) 조회 - Impact Factor (JCR) 등재 - Web of Science (SCIE) 등재 - SCOPUS

Screening for hypophosphatasia: does biochemistry lead the way?

학술저널

issue: Journal of Pediatric Endocrinology and Metabolism. 35(2):169-178
Author: Held, Corinna Melanie^{j_jpem-2021-0104_aff_001}
Guebelin, Anic^{j_jpem-2021-0104_aff_001}
Krebs, Andreas^{j_jpem-2021-0104_aff_001}
Sass, Jörn Oliver^{j_jpem-2021-0104_aff_002}
Wurm, Michael^{j_jpem-2021-0104_aff_001}
Lausch, Ekkehart^{j_jpem-2021-0104_aff_001}
van der Werf-Grohmann, Natascha^{j_jpem-2021-0104_aff_001}
Schwab, Karl Otfried^{j_jpem-2021-0104_aff_001}
DB Label: Database : De Gruyter Online

원문보기: Full Text(De Gruyter) 조회 - Impact Factor (JCR) 등재 - Web of Science (SCIE) 등재 - SCOPUS 원문복사신청 - FRIC

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis

학술저널

issue: Nature Genetics. 50(1)
Author: Pol, Arjan
Renkema, G Herma
Tangerman, Albert
Winkel, Edwin G
Engelke, Udo F
de Brouwer, Arjan PM
Lloyd, Kent C
Araiza, Renee S
van den Heuvel, Lambert
Omran, Heymut
Olbrich, Heike
Oude Elberink, Marijn
Gilissen, Christian
Rodenburg, Richard J
Sass, Jörn Oliver
Schwab, K Otfried
Schäfer, Hendrik
Venselaar, Hanka
Sequeira, J Silvia
Op den Camp, Huub JM
Wevers, Ron A
DB Label: Database : eScholarship

원문보기: Open Access (eScholarship)

Aspartoacylase Deficiency (Canavan Disease, N-Acetylaspartic Aciduria)

전자책

issue: Human Pathobiochemistry : From Clinical Studies to Molecular Mechanisms. :15-21
Author: Sass, Jörn Oliver^Aff6
Knerr, Ina^Aff7
DB Label: Database : Springer Nature eBooks

원문보기

Labordiagnostik bei angeborenen Stoffwechselstörungen
Laboratory diagnostics in inborn errors of metabolism

학술저널

issue: Monatsschrift Kinderheilkunde: Zeitschrift für Kinder- und Jugendmedizin. 168(9):777-785
Author: Sass, Jörn Oliver^Aff1
DB Label: Database : Springer Nature Journals

원문보기: 조회 - Impact Factor (JCR) 등재 - Web of Science (SCIE) 등재 - SCOPUS 원문복사신청 - RISS

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