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The National Austrian Newborn Screening Program - Eight years experience with mass spectrometry. Past, present, and future goals.
- Published in:
- Wiener Klinische Wochenschrift, 2010, v. 122, n. 21/22, p. 607, doi. 10.1007/s00508-010-1457-3
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- Article
Mutations in NDUFS1 Cause Metabolic Reprogramming and Disruption of the Electron Transfer.
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- Cells (2073-4409), 2019, v. 8, n. 10, p. 1149, doi. 10.3390/cells8101149
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- Article
Risk factors for impaired health-related quality of life in a cohort of pediatric patients with inborn metabolic diseases.
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- European Journal of Pediatrics, 2022, v. 181, n. 3, p. 1063, doi. 10.1007/s00431-021-04300-y
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- Article
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
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- Nutrients, 2022, v. 14, n. 17, p. 3605, doi. 10.3390/nu14173605
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- Article
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
- Published in:
- 2018
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- Publication type:
- journal article
The TGF‐b/SOX4 axis and ROS‐driven autophagy co‐mediate CD39 expression in regulatory T‐cells.
- Published in:
- FASEB Journal, 2020, v. 34, n. 6, p. 8367, doi. 10.1096/fj.201902664
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- Publication type:
- Article
Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns.
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- Diagnostics (2075-4418), 2020, v. 10, n. 9, p. 626, doi. 10.3390/diagnostics10090626
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- Article
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 40, doi. 10.3390/ijns10020040
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- Publication type:
- Article
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.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020032
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- Publication type:
- Article
Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.
- Published in:
- 2016
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- Publication type:
- journal article
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0254-5
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- Publication type:
- Article
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0236-7
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- Publication type:
- Article
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
- Published in:
- 2015
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- Publication type:
- journal article
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.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 705, doi. 10.1002/jimd.12602
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- Publication type:
- Article
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.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 144, doi. 10.1002/jimd.12442
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- Publication type:
- Article
Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 611, doi. 10.1002/jimd.12200
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- Publication type:
- Article
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 81, doi. 10.1007/s10545-017-0097-4
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- Publication type:
- Article
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 905, doi. 10.1007/s10545-015-9836-6
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- Publication type:
- Article
TMEM70 deficiency: long-term outcome of 48 patients.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 417, doi. 10.1007/s10545-014-9774-8
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- Publication type:
- Article
Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.
- Published in:
- 2015
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- Publication type:
- Erratum
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 7, doi. 10.1007/s10545-012-9485-y
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- Publication type:
- Article
MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.
- Published in:
- European Journal of Pediatrics, 2015, v. 174, n. 1, p. 113, doi. 10.1007/s00431-014-2463-7
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- Publication type:
- Article
PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening.
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- Metabolites (2218-1989), 2023, v. 13, n. 11, p. 1141, doi. 10.3390/metabo13111141
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- Publication type:
- Article
Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders.
- Published in:
- 2021
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- Publication type:
- journal article
Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.
- Published in:
- Molecular Medicine Reports, 2016, v. 14, n. 5, p. 4906, doi. 10.3892/mmr.2016.5819
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- Publication type:
- Article