Detalhe da pesquisa
1.
The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.
Mol Genet Metab
; 142(1): 108345, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38387306
2.
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
J Inherit Metab Dis
; 42(1): 107-116, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30740739
3.
Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.
Int J Mol Sci
; 19(4)2018 Mar 28.
Artigo
Inglês
| MEDLINE | ID: mdl-29597274
4.
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Mol Genet Metab
; 111(1): 16-25, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24268530
5.
The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis.
JCEM Case Rep
; 2(2): luae004, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38249444
6.
Mitochondrial Diseases and Cardiomyopathies.
Can J Cardiol
; 31(11): 1360-76, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26518446
7.
Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.
JIMD Rep
; 22: 67-75, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-25762494