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Workload and job satisfaction among Austrian pediatricians: gender and generational aspects.
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- Wiener Klinische Wochenschrift, 2022, v. 134, n. 13/14, p. 516, doi. 10.1007/s00508-022-02050-x
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- Publication type:
- Article
Stereotactic Radiofrequency Ablation for Liver Tumors in Inherited Metabolic Disorders.
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- CardioVascular & Interventional Radiology, 2014, v. 37, n. 4, p. 1027, doi. 10.1007/s00270-013-0756-2
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- Publication type:
- Article
Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.
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- Cells (2073-4409), 2021, v. 10, n. 5, p. 1239, doi. 10.3390/cells10051239
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- Article
Immunological Memory and Affinity Maturation After Vaccination in Patients With Propionic Acidemia.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.774503
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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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- Publication type:
- Article
Can untreated PKU patients escape from intellectual disability? A systematic review.
- Published in:
- 2018
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- Publication type:
- journal 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
Lipidomic and Proteomic Alterations Induced by Even and Odd Medium-Chain Fatty Acids on Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10556, doi. 10.3390/ijms221910556
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- Article
KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1319, doi. 10.1002/acn3.50799
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- Publication type:
- Article
Altered Serum Proteins Suggest Inflammation, Fibrogenesis and Angiogenesis in Adult Patients with a Fontan Circulation.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 10, p. 5416, doi. 10.3390/ijms25105416
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- Article
MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy.
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- Clinical Genetics, 2019, v. 95, n. 1, p. 182, doi. 10.1111/cge.13462
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- Publication type:
- Article
Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy.
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- Annals of Human Genetics, 2012, v. 76, n. 4, p. 326, doi. 10.1111/j.1469-1809.2012.00710.x
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- Publication type:
- Article
Nitisinone treatment during two pregnancies and breastfeeding in a woman with tyrosinemia type 1 – a case report.
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- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 2, p. 259, doi. 10.1515/jpem-2021-0465
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- Article
Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
- Published in:
- 2016
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- Publication type:
- Erratum
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
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- Journal of Clinical Immunology, 2016, v. 36, n. 3, p. 220, doi. 10.1007/s10875-016-0252-y
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- Publication type:
- Article
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.
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- Metabolomics, 2020, v. 16, n. 12, p. 1, doi. 10.1007/s11306-020-01741-8
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- Article
Targeted metabolomic analysis of serum amino acids in the adult Fontan patient with a dominant left ventricle.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65852-x
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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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- Publication type:
- Article
The COVID‐19 pandemic reduced paediatric emergency department visits but did not significantly increase urgent cases.
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- Acta Paediatrica, 2022, v. 111, n. 1, p. 130, doi. 10.1111/apa.16138
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- Publication type:
- Article
Frenotomy for tongue-tie (frenulum linguae breve) showed improved symptoms in the short- and long-term follow-up.
- Published in:
- 2019
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- Publication type:
- journal article
Haematological characteristics and spontaneous haematological recovery in Pearson syndrome.
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- British Journal of Haematology, 2021, v. 193, n. 6, p. 1283, doi. 10.1111/bjh.17434
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- Publication type:
- Article
Breast milk feeding in infants with inherited metabolic disorders other than phenylketonuria - a 10-year single-center experience.
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- Journal of Perinatal Medicine, 2017, v. 45, n. 3, p. 375, doi. 10.1515/jpm-2016-0205
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- Publication type:
- Article
Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach.
- Published in:
- Scientific Reports, 2016, p. 34017, doi. 10.1038/srep34017
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- Publication type:
- Article
Targeted metabolomic analysis of serum phospholipid and acylcarnitine in the adult Fontan patient with a dominant left ventricle.
- Published in:
- Therapeutic Advances in Chronic Disease, 2020, v. 11, p. 1, doi. 10.1177/2040622320916031
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- Publication type:
- Article
Targeted metabolomic analysis of serum phospholipid and acylcarnitine in the adult Fontan patient with a dominant left ventricle.
- Published in:
- Therapeutic Advances in Chronic Disease, 2020, p. 1, doi. 10.1177/2040622320916031
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- Publication type:
- Article
Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland.
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- Orphanet Journal of Rare Diseases, 2017, v. 12, p. 1, doi. 10.1186/s13023-017-0661-x
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- Article
ALG8-CDG: novel patients and review of the literature.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0289-7
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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).
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- 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
ALG8-CDG: novel patients and review of the literature.
- Published in:
- 2015
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- Publication type:
- journal article
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 161, doi. 10.1186/s13023-014-0161-1
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- Publication type:
- Article
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0130-8
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- Publication type:
- Article
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.
- Published in:
- 2014
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- Publication type:
- journal article
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-6
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- Publication type:
- Article
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
- Published in:
- 2013
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- Publication type:
- journal article
Suggested guidelines for the diagnosis and management of urea cycle disorders.
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- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 32, doi. 10.1186/1750-1172-7-32
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- Publication type:
- Article
Correction to: Lost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
- Published in:
- 2023
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- Publication type:
- Correction Notice
ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
- Published in:
- Cellular & Molecular Life Sciences, 2022, v. 79, n. 11, p. 1, doi. 10.1007/s00018-022-04579-6
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- Publication type:
- Article
Adiponectin and visfatin concentrations in children treated with valproic acid.
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- Epilepsia (Series 4), 2008, v. 49, n. 2, p. 353, doi. 10.1111/j.1528-1167.2007.01460.x
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- Publication type:
- Article
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 482, doi. 10.1002/jimd.12566
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- Publication type:
- Article
Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 220, doi. 10.1002/jimd.12572
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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
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 566, doi. 10.1002/jimd.12370
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- Publication type:
- Article
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1192, doi. 10.1002/jimd.12100
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- Publication type:
- Article
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 741, doi. 10.1007/s10545-017-0116-5
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- Publication type:
- Article
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 75, doi. 10.1007/s10545-016-9999-9
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- Publication type:
- Article
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 331, doi. 10.1007/s10545-016-9928-y
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- Publication type:
- Article
Impact of age at onset and newborn screening on outcome in organic acidurias.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 341, doi. 10.1007/s10545-015-9907-8
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- Publication type:
- Article
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1059, doi. 10.1007/s10545-015-9840-x
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- Publication type:
- Article
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1041, doi. 10.1007/s10545-015-9839-3
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- Publication type:
- Article