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1.
Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency.
Mol Genet Metab
; 122(3): 61-66, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28918066
2.
Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Mol Genet Metab
; 120(4): 342-349, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28202214
3.
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
Mol Genet Metab
; 120(3): 213-222, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-27913098
4.
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
Mol Genet Metab
; 113(3): 161-70, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-24863970
5.
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
Mol Genet Metab
; 107(3): 394-402, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-23021068
6.
Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.
Eur J Paediatr Neurol
; 31: 27-30, 2021 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-33592356
7.
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.
JIMD Rep
; 48(1): 26-35, 2019 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-31392110
8.
Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.
Mol Genet Metab Rep
; 1: 362-367, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-27896109
9.
Assays of pyruvate dehydrogenase complex and pyruvate carboxylase activity.
Methods Mol Biol
; 837: 93-119, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22215543
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