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.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668217
3.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
J Inherit Metab Dis
; 46(3): 482-519, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36221165
4.
ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
Cell Mol Life Sci
; 79(11): 562, 2022 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271951
5.
Altered gut microbiome diversity and function in patients with propionic acidemia.
Mol Genet Metab
; 137(3): 308-322, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36274442
6.
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
7.
The Manchester Triage System in a Pediatric Emergency Department of an Austrian University Hospital: A Retrospective Analysis of Urgency Levels.
Pediatr Emerg Care
; 38(2): e639-e643, 2022 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34267157
8.
Galactokinase deficiency: lessons from the GalNet registry.
Genet Med
; 23(1): 202-210, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32807972
9.
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
10.
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
11.
Subdural Hygroma in an Infant with Marfan's Syndrome.
Neuropediatrics
; 52(6): 423-430, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34233372
12.
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
Genet Med
; 22(5): 908-916, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31904027
13.
Method comparison of HPLC-ninhydrin-photometry and UHPLC-PITC-tandem mass spectrometry for serum amino acid analyses in patients with complex congenital heart disease and controls.
Metabolomics
; 16(12): 128, 2020 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33319318
14.
The value of axillary skin electron microscopic analysis in the diagnosis of lysosomal storage disorders.
Mod Pathol
; 32(6): 755-763, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30723298
15.
Correction to: Lost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
Cell Mol Life Sci
; 80(1): 37, 2023 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36627535
16.
Frenotomy for tongue-tie (frenulum linguae breve) showed improved symptoms in the short- and long-term follow-up.
Acta Paediatr
; 108(10): 1861-1866, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30968969
17.
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
Am J Hum Genet
; 96(2): 309-17, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25658047
18.
Former very preterm infants show alterations in plasma amino acid profiles at a preschool age.
Pediatr Res
; 81(5): 787-794, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28141791
19.
The COVID-19 pandemic reduced paediatric emergency department visits but did not significantly increase urgent cases.
Acta Paediatr
; 111(1): 130-132, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34614546
20.
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
J Clin Immunol
; 36(3): 220-34, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26951490