Detalhe da pesquisa
1.
Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.
Int J Mol Sci
; 24(5)2023 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36901867
2.
Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant ß-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson's Disease.
Int J Mol Sci
; 24(10)2023 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37240451
3.
Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.
Int J Mol Sci
; 23(19)2022 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36232726
4.
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Int J Mol Sci
; 23(21)2022 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36361766
5.
Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.
Metab Brain Dis
; 35(6): 1009-1016, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32240488
6.
Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients.
BMC Med Genet
; 20(1): 123, 2019 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31296176
7.
Plasma FGF-21 and GDF-15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders.
J Inherit Metab Dis
; 42(5): 918-933, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31260105
8.
Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients.
J Pediatr Gastroenterol Nutr
; 67(4): 452-457, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29958253
9.
Could Blood Hexosylsphingosine Be a Marker for Parkinson's Disease Linked with GBA1 Mutations?
Mov Disord
; 37(8): 1779-1781, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35792565
10.
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: high outcome variation between two siblings.
Neuropediatrics
; 45(3): 188-91, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24407472
11.
Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.
Genes (Basel)
; 15(5)2024 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38790244
12.
New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.
Int J Neonatal Screen
; 9(3)2023 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37754774
13.
Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice.
J Pers Med
; 13(10)2023 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37888103
14.
Overlapping Phenotype of Adult-Onset ALPK3-Cardiomyopathy in the Setting of Two Novel Variants.
Cardiol Res
; 13(6): 398-404, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36660067
15.
A Clinical Case of a Homozygous Deletion in the APOA5 Gene with Severe Hypertriglyceridemia.
Genes (Basel)
; 13(6)2022 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35741823
16.
BH4-deficient hyperphenylalaninemia in Russia.
PLoS One
; 16(4): e0249608, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33822819
17.
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
Biomed Rep
; 14(1): 15, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33269076
18.
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
J Clin Invest
; 131(6)2021 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33465056
19.
Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.
JIMD Rep
; 53(1): 39-44, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32395408
20.
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.
Orphanet J Rare Dis
; 14(1): 55, 2019 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-30795770