Detalhe da pesquisa
1.
Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.
Genet Med
; 25(11): 100944, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37493040
2.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
3.
Mitochondrial organization and structure are compromised in fibroblasts from patients with Huntington's disease.
Ultrastruct Pathol
; 46(5): 462-475, 2022 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35946926
4.
White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis.
Mol Genet Metab
; 132(3): 189-197, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33317989
5.
Extremely low birthweight neonates with phenylketonuria require special dietary management.
Acta Paediatr
; 110(11): 2994-2999, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34289149
6.
Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.
J Inherit Metab Dis
; 43(4): 694-700, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32216104
7.
Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.
BMC Pediatr
; 20(1): 41, 2020 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996177
8.
Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene.
Prague Med Rep
; 121(3): 153-162, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33030144
9.
Double-coated pellets with semipermeable ethylcellulose coating for detection of cholinesterase inhibitors.
Ceska Slov Farm
; 69(1): 24-32, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32460507
10.
Sideroblastic anemia associated with multisystem mitochondrial disorders.
Pediatr Blood Cancer
; 66(4): e27591, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30588737
11.
Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene.
Prague Med Rep
; 120(4): 124-130, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31935347
12.
POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.
Neurol Neurochir Pol
; 53(5): 369-376, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31577365
13.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453860
14.
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop.
J Inherit Metab Dis
; 41(6): 1267-1273, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30027425
15.
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.
J Inherit Metab Dis
; 41(4): 741-742, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29234995
16.
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
J Inherit Metab Dis
; 41(4): 743-744, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330779
17.
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.
Acta Paediatr
; 107(8): 1402-1408, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29797470
18.
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
Acta Paediatr
; 107(12): 2059-2065, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30242902
19.
Loss of Mitochondrial AAA Proteases AFG3L2 and YME1L Impairs Mitochondrial Structure and Respiratory Chain Biogenesis.
Int J Mol Sci
; 19(12)2018 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30544562
20.
Alcohol and drug intoxications in adolescents admitted to paediatric wards in the Czech Republic: 5-year retrospective study 2006-2010.
Cent Eur J Public Health
; 26(1): 39-44, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29684296