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1.
Loss of CD4+ T cell-intrinsic arginase 1 accelerates Th1 response kinetics and reduces lung pathology during influenza infection.
Immunity
; 56(9): 2036-2053.e12, 2023 09 12.
Article
in English
| MEDLINE | ID: mdl-37572656
2.
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Brain
; 147(5): 1653-1666, 2024 May 03.
Article
in English
| MEDLINE | ID: mdl-38380699
3.
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 03.
Article
in English
| MEDLINE | ID: mdl-38375550
4.
Altered Serum Proteins Suggest Inflammation, Fibrogenesis and Angiogenesis in Adult Patients with a Fontan Circulation.
Int J Mol Sci
; 25(10)2024 May 16.
Article
in English
| MEDLINE | ID: mdl-38791454
5.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Article
in English
| MEDLINE | ID: mdl-32668217
6.
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.
J Inherit Metab Dis
; 46(2): 220-231, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36266255
7.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
J Inherit Metab Dis
; 46(3): 482-519, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36221165
8.
ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
Cell Mol Life Sci
; 79(11): 562, 2022 Oct 22.
Article
in English
| MEDLINE | ID: mdl-36271951
9.
Altered gut microbiome diversity and function in patients with propionic acidemia.
Mol Genet Metab
; 137(3): 308-322, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36274442
10.
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.
Article
in English
| MEDLINE | ID: mdl-34595757
11.
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.
Article
in English
| MEDLINE | ID: mdl-34267157
12.
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Am J Hum Genet
; 103(5): 817-825, 2018 11 01.
Article
in English
| MEDLINE | ID: mdl-30401461
13.
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
Am J Hum Genet
; 102(4): 685-695, 2018 04 05.
Article
in English
| MEDLINE | ID: mdl-29576219
14.
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.
Article
in English
| MEDLINE | ID: mdl-34083143
15.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
J Inherit Metab Dis
; 44(3): 566-592, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33595124
16.
Subdural Hygroma in an Infant with Marfan's Syndrome.
Neuropediatrics
; 52(6): 423-430, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34233372
17.
Lipidomic and Proteomic Alterations Induced by Even and Odd Medium-Chain Fatty Acids on Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.
Int J Mol Sci
; 22(19)2021 Sep 29.
Article
in English
| MEDLINE | ID: mdl-34638902
18.
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.
Article
in English
| MEDLINE | ID: mdl-33319318
19.
Stereotactic radiofrequency ablation of a variety of liver masses in children.
Int J Hyperthermia
; 37(1): 1074-1081, 2020.
Article
in English
| MEDLINE | ID: mdl-32954876
20.
The value of axillary skin electron microscopic analysis in the diagnosis of lysosomal storage disorders.
Mod Pathol
; 32(6): 755-763, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30723298