Detalhe da pesquisa
1.
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Hepatology
; 79(5): 1075-1087, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37976411
2.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305855
3.
Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study.
J Inherit Metab Dis
; 46(4): 705-719, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36849760
4.
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Am J Hum Genet
; 104(4): 758-766, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929739
5.
100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.
J Inherit Metab Dis
; 45(2): 144-156, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34595757
6.
Risk factors for impaired health-related quality of life in a cohort of pediatric patients with inborn metabolic diseases.
Eur J Pediatr
; 181(3): 1063-1070, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34718865
7.
Project "Backtoclinic I": An overview on the state of care of adult PKU patients in Austria.
Mol Genet Metab
; 133(3): 257-260, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34083143
8.
The TGF-b/SOX4 axis and ROS-driven autophagy co-mediate CD39 expression in regulatory T-cells.
FASEB J
; 34(6): 8367-8384, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319705
9.
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Genet Med
; 22(3): 610-621, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31761904
10.
Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.
J Inherit Metab Dis
; 43(3): 611-617, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31800099
11.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Am J Hum Genet
; 98(6): 1130-1145, 2016 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259049
12.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
J Inherit Metab Dis
; 42(2): 333-352, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773687
13.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
J Inherit Metab Dis
; 42(1): 128-139, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740731
14.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100828, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37272928
15.
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.
J Inherit Metab Dis
; 41(1): 81-90, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29027067
16.
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Mol Genet Metab
; 122(1-2): 67-75, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28689740
17.
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Am J Hum Genet
; 93(3): 482-95, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23993194
18.
TMEM70 deficiency: long-term outcome of 48 patients.
J Inherit Metab Dis
; 38(3): 417-26, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326274
19.
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
J Inherit Metab Dis
; 38(5): 905-14, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25868664
20.
MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.
Eur J Pediatr
; 174(1): 113-8, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25446406