Detalhe da pesquisa
1.
Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.
Int J Mol Sci
; 24(15)2023 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37569695
2.
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
Mol Genet Metab
; 131(3): 349-357, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33153867
3.
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.
Hum Mutat
; 40(10): 1700-1712, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31058414
4.
A Novel AIFM1-Related Disorder Phenotype Treated with Deep Brain Stimulation.
Mov Disord
; 39(1): 215-217, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37787095
5.
Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report.
Pediatr Transplant
; 22(7): e13278, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30091163
6.
A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.
J Pediatr
; 183: 170-177.e1, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28139241
7.
Small molecules as therapeutic agents for inborn errors of metabolism.
J Inherit Metab Dis
; 40(2): 177-193, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27966099
8.
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
Brain
; 139(Pt 1): 31-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26657515
9.
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Hum Mutat
; 37(2): 139-47, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26499107
10.
Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds.
Hum Mol Genet
; 22(4): 633-45, 2013 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23118351
11.
Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease.
J Inherit Metab Dis
; 37(3): 439-46, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24347096
12.
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Brain Pathol
; 33(3): e13134, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450274
13.
Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain.
Mol Genet Metab
; 106(2): 196-201, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22521955
14.
Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis.
Prenat Diagn
; 32(12): 1139-42, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22991067
15.
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
J Clin Med
; 11(6)2022 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35330074
16.
Bioenergetic and Autophagic Characterization of Skin Fibroblasts from C9orf72 Patients.
Antioxidants (Basel)
; 11(6)2022 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35740026
17.
Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects.
Antioxidants (Basel)
; 11(4)2022 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35453428
18.
External quality assessment in the absence of proficiency testing: A split-sample testing program experience.
Clin Biochem
; 97: 78-81, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34329621
19.
Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene.
Clin Case Rep
; 9(2): 790-795, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33598246
20.
Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness.
Parkinsonism Relat Disord
; 91: 19-22, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34454394