Detalhe da pesquisa
1.
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
J Inherit Metab Dis
; 47(2): 220-229, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38375550
2.
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.
Mol Genet Metab
; 139(3): 107610, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37245379
3.
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
4.
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Clin Genet
; 104(5): 542-553, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37526466
5.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Ann Neurol
; 92(2): 292-303, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616651
6.
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Am J Hum Genet
; 104(5): 835-846, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982613
7.
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Mol Genet Metab
; 133(4): 397-399, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34140212
8.
Subjective and polysomnographic evaluation of sleep in mitochondrial optic neuropathies.
J Sleep Res
; 30(2): e13051, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32524698
9.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
J Inherit Metab Dis
; 44(3): 566-592, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33595124
10.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
J Inherit Metab Dis
; 44(1): 148-163, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681750
11.
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
J Inherit Metab Dis
; 44(4): 1070-1082, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443316
12.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
J Inherit Metab Dis
; 44(6): 1489-1502, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245036
13.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Brain
; 143(8): 2437-2453, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761064
14.
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
BMC Ophthalmol
; 21(1): 249, 2021 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34090370
15.
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Hum Mol Genet
; 27(17): 3029-3045, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29878199
16.
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
17.
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
J Inherit Metab Dis
; 43(4): 671-693, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266963
18.
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
19.
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
20.
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Genet Med
; 21(5): 1181-1188, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293989