Detalhe da pesquisa
1.
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Mol Genet Metab
; 142(2): 108486, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38733639
2.
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Am J Hum Genet
; 106(2): 256-263, 2020 02 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32004446
3.
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
Inglês
| MEDLINE | ID: mdl-34595757
4.
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
Inglês
| MEDLINE | ID: mdl-34083143
5.
Congenital disorders of glycosylation with defective fucosylation.
J Inherit Metab Dis
; 44(6): 1441-1452, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34389986
6.
3 Cases of "Tropical" Pyomyositis in Austrian Children Without a History of Foreign Travel.
Klin Padiatr
; 235(5): 305-307, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35944564
7.
Poor adherence during adolescence is a risk factor for becoming lost-to-follow-up in patients with phenylketonuria.
Mol Genet Metab Rep
; 39: 101087, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38766496
8.
PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening.
Metabolites
; 13(11)2023 Nov 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37999237
9.
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
J Neurol
; 270(2): 909-916, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36308527
10.
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
Nutrients
; 14(17)2022 Aug 31.
Artigo
Inglês
| MEDLINE | ID: mdl-36079864
11.
[Multiple liver lesions accompanied by eosinophilia - a case report of fascioliosis]. / Multiple Leberherde und Eosinophilie - ein Fallbericht einer Fasciola hepatica-Infektion.
Wien Med Wochenschr
; 161(17-18): 448-54, 2011 Sep.
Artigo
Alemão
| MEDLINE | ID: mdl-22016067
12.
Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders.
Orphanet J Rare Dis
; 16(1): 28, 2021 01 14.
Artigo
Inglês
| MEDLINE | ID: mdl-33446227
13.
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria.
Orphanet J Rare Dis
; 16(1): 367, 2021 08 19.
Artigo
Inglês
| MEDLINE | ID: mdl-34412683
14.
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
Int J Neonatal Screen
; 7(2)2021 Jun 18.
Artigo
Inglês
| MEDLINE | ID: mdl-34207159
15.
Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32.
Int J Neonatal Screen
; 8(1)2021 Dec 31.
Artigo
Inglês
| MEDLINE | ID: mdl-35076458
16.
Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns.
Diagnostics (Basel)
; 10(9)2020 Aug 24.
Artigo
Inglês
| MEDLINE | ID: mdl-32846920