Detalhe da pesquisa
1.
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
J Inherit Metab Dis
; 38(5): 957-67, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25526710
2.
Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.
Prague Med Rep
; 112(1): 18-28, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21470495
3.
Dietary patterns, cost and compliance with low-protein diet of phenylketonuria and other inherited metabolic diseases.
Eur J Clin Nutr
; 72(1): 87-92, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28656971
4.
Time-course of hormonal induction of mitochondrial glycerophosphate dehydrogenase biogenesis in rat liver.
Biochim Biophys Acta
; 1726(2): 217-23, 2005 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16039782
5.
Deficiency of mitochondrial ATP synthase of nuclear genetic origin.
Neuromuscul Disord
; 16(12): 821-9, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17052906
6.
Specific properties of heavy fraction of mitochondria from human-term placenta - glycerophosphate-dependent hydrogen peroxide production.
Placenta
; 27(4-5): 348-56, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-15949844
7.
Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.
Clin Chim Acta
; 438: 261-5, 2015 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25218699
8.
Glycerophosphate-dependent hydrogen peroxide production by rat liver mitochondria.
Physiol Res
; 53(3): 305-10, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15209538
9.
Glycerophosphate-dependent peroxide production by brown fat mitochondria from newborn rats.
Gen Physiol Biophys
; 22(1): 93-102, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12870704
10.
GUG is an efficient initiation codon to translate the human mitochondrial ATP6 gene.
Biochem Biophys Res Commun
; 313(3): 687-93, 2004 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-14697245