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1.
Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.
Biochim Biophys Acta Mol Basis Dis
; 1863(1): 33-42, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27760377
2.
Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.
J Inherit Metab Dis
; 39(6): 795-800, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27686230
3.
Fecal amine metabolite analysis before onset of severe necrotizing enterocolitis in preterm infants: a prospective case-control study.
Sci Rep
; 12(1): 12310, 2022 07 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-35853977
4.
4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency.
Mol Genet Metab
; 102(2): 216-7, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-20965758
5.
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening.
Mol Genet Metab
; 102(3): 339-42, 2011 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-21195649
6.
Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.
J Inherit Metab Dis
; 32 Suppl 1: S5-10, 2009 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19130291
7.
Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine.
J Inherit Metab Dis
; 30(5): 735-42, 2007 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-17603756
8.
Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for γ-hydroxybutyric acid (GHB) in biofluids.
Mol Genet Metab Rep
; 11: 81-89, 2017 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-28649510
9.
Enantiomer-specific and paracrine leukemogenicity of mutant IDH metabolite 2-hydroxyglutarate.
Leukemia
; 30(8): 1708-15, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27063596
10.
An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency.
J Pharm Biomed Anal
; 18(4-5): 659-65, 1998 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-9919967
11.
D-2-hydroxyglutarate metabolism is linked to photorespiration in the shm1-1 mutant.
Plant Biol (Stuttg)
; 15(4): 776-84, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23551974
12.
Accumulation of thymidine-derived sugars in thymidine phosphorylase overexpressing cells.
Biochem Pharmacol
; 80(6): 786-92, 2010 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-20488166
13.
Direct comparison of quantitative digital PCR and 2-hydroxyglutarate enantiomeric ratio for IDH mutant allele frequency assessment in myeloid malignancy.
Leukemia
; 29(12): 2421-3, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26088953
14.
Behavioral effects and pharmacokinetics of gamma-hydroxybutyrate (GHB) precursors gamma-butyrolactone (GBL) and 1,4-butanediol (1,4-BD) in baboons.
Psychopharmacology (Berl)
; 204(3): 465-76, 2009 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-19198808
15.
Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography-tandem mass spectrometry: application to SSADH deficiency.
J Inherit Metab Dis
; 28(6): 913-20, 2005.
Artículo
en Inglés
| MEDLINE | ID: mdl-16435183
16.
Determination of S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid by stable-isotope dilution tandem mass spectrometry.
Clin Chem
; 46(10): 1650-6, 2000 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-11017945
17.
Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency.
Neurobiol Dis
; 16(3): 556-62, 2004 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-15262267
18.
Analysis of pristanic acid beta-oxidation intermediates in plasma from healthy controls and patients affected with peroxisomal disorders by stable isotope dilution gas chromatography mass spectrometry.
J Lipid Res
; 40(2): 260-6, 1999 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-9925655
19.
Images in cardiology. Profound coronary spasm caused by a mediastinal draining tube.
Heart
; 92(4): 514, 2006 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-16537766
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