Detalles de la búsqueda
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.
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.
Clin Genet
; 87(2): 141-7, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24597975
4.
A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies.
Biochim Biophys Acta
; 1812(11): 1380-4, 2011 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-21889589
5.
Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.
Mol Genet Metab
; 107(3): 433-7, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-23031365
6.
Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
Clin Genet
; 79(3): 264-72, 2011 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-20528887
7.
The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.
J Inherit Metab Dis
; 33 Suppl 3: S5-11, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24137762
8.
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.
J Inherit Metab Dis
; 33 Suppl 3: S253-6, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-20549361
9.
Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients.
J Inherit Metab Dis
; 32(2): 264-8, 2009 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-19283509
10.
Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.
J Inherit Metab Dis
; 32(6): 713, 2009 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19821142
11.
Arginine supplementation in four patients with X-linked creatine transporter defect.
J Inherit Metab Dis
; 31(6): 724-8, 2008 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-18925426
12.
L-2-Hydroxyglutaric aciduria presenting with severe autistic features.
Brain Dev
; 30(4): 305-7, 2008 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-17981416
13.
Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy.
J Inherit Metab Dis
; 30(1): 100, 2007 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-17171576
14.
Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.
J Inherit Metab Dis
; 30(1): 23-8, 2007 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-17186413
15.
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
16.
Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.
Mol Genet Metab Rep
; 6: 60-3, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-27014579
17.
A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.
Gene
; 575(1): 127-31, 2016 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26319512
18.
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
Hum Mutat
; 26(4): 395-6, 2005 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-16134148
19.
Bcl-2 family members in childhood acute lymphoblastic leukemia: relationships with features at presentation, in vitro and in vivo drug response and long-term clinical outcome.
Leukemia
; 13(10): 1574-80, 1999 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-10516759
20.
Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency.
Clin Neurophysiol
; 115(6): 1417-22, 2004 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-15134710