ARTICLE
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doi:10.20944/preprints202401.1423.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Perrault Syndrome; PLP; metal homeostasis; delta amino acids
Online: 19 January 2024 (04:47:47 CET)
ARTICLE
|
doi:10.20944/preprints202009.0108.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Synuclein; CPT1A; MMP14; PYGL; Tfrc; Ireb2; Pgrmc1; Hmox1; Cyp46a1; Slc11a2; Slc25a37
Online: 5 September 2020 (03:54:37 CEST)
ARTICLE
|
doi:10.20944/preprints201911.0042.v1
Subject:
Biology And Life Sciences,
Endocrinology And Metabolism
Keywords:
olivo-ponto-cerebellar atrophy (OPCA); amyotrophic lateral sclerosis (ALS); tauopathy; leukodystrophy; mass spectrometry; RT-qPCR; Ceramide Synthase (CERS2/CERS1); Serine Palmitoyltransferase 2 (Sptlc2); neutral Sphingomyelinase (Smpd3); neutral Ceramidase (Asah2); Fatty Acid Elongase (Elovl1/4/5); SCA34; SCA38; acid Sphingomyelinase (ASMase, Smpd1)
Online: 5 November 2019 (03:04:02 CET)