Detalhe da pesquisa
1.
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Epilepsia
; 64(6): 1612-1626, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36994644
2.
Postauthorization safety study of betaine anhydrous.
J Inherit Metab Dis
; 45(4): 719-733, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358327
3.
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
J Inherit Metab Dis
; 45(5): 952-962, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35722880
4.
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
Hum Mol Genet
; 28(2): 258-268, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30285085
5.
Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
J Inherit Metab Dis
; 44(3): 677-692, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33295057
6.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.
Am J Hum Genet
; 98(5): 993-1000, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27132592
7.
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.
Neurogenetics
; 18(4): 227-235, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29075935
8.
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
J Inherit Metab Dis
; 40(1): 49-74, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27778219
9.
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
J Med Genet
; 53(9): 634-41, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27091925
10.
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Brain
; 138(Pt 12): 3503-19, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26510951
11.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.
Am J Hum Genet
; 99(1): 246, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392079
12.
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.
Mol Genet Metab
; 113(4): 301-6, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25458521
13.
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
JAMA
; 312(1): 68-77, 2014 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25058219
14.
Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.
Nat Genet
; 30(2): 145-6, 2002 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11799391
15.
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Nat Genet
; 36(4): 400-4, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15052268
16.
Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.
Mol Genet Metab Rep
; 37: 101009, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38053939
17.
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.
Mol Genet Metab Rep
; 37: 101020, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38053940
18.
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.
J Inherit Metab Dis
; 35(6): 1037-49, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22450714
19.
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
Hum Mutat
; 30(2): 248-54, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18828154
20.
Peritoneal dialysis for chronic renal failure in a patient with methylmalonic acidaemia.
Pediatr Nephrol
; 24(5): 1085-7, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19048296