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1.
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Mol Genet Metab
; 139(2): 107605, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37207470
2.
Solvent accessibility of E1α and E1ß residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function.
J Inherit Metab Dis
; 45(3): 557-570, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35038180
3.
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.
JIMD Rep
; 56(1): 70-81, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-33204598
4.
Acute sleep disruption- and high-fat diet-induced hypothalamic inflammation are not related to glucose tolerance in mice.
Neurobiol Sleep Circadian Rhythms
; 4: 1-9, 2018 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-29732438
5.
The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification.
Mol Genet Metab Rep
; 23: 100598, 2020 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-32420033
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