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Frenotomy for tongue-tie (frenulum linguae breve) showed improved symptoms in the short- and long-term follow-up.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Comparative Serum Analyses Identify Cytokines and Hormones Commonly Dysregulated as Well as Implicated in Promoting Osteolysis in MMP-2-Deficient Mice and Children.
- Published in:
- Frontiers in Physiology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphys.2020.568718
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- Publication type:
- Article
ALG8-CDG: novel patients and review of the literature.
- Published in:
- 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).
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0236-7
- By:
- Publication type:
- Article
ALG8-CDG: novel patients and review of the literature.
- Published in:
- 2015
- By:
- 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
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 161, doi. 10.1186/s13023-014-0161-1
- By:
- Publication type:
- Article
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0107-7
- By:
- Publication type:
- Article
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0130-8
- By:
- 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
- By:
- Publication type:
- journal article
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Adiponectin and visfatin concentrations in children treated with valproic acid.
- Published in:
- 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
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1203
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- Publication type:
- Article
Comparative Metabolomics in Single Ventricle Patients after Fontan Palliation: A Strong Case for a Targeted Metabolic Therapy.
- Published in:
- Metabolites (2218-1989), 2023, v. 13, n. 8, p. 932, doi. 10.3390/metabo13080932
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- Publication type:
- Article
Amino Acid and Phospholipid Metabolism as an Indicator of Inflammation and Subtle Cardiomyopathy in Patients with Marfan Syndrome.
- Published in:
- Metabolites (2218-1989), 2021, v. 11, n. 12, p. 805, doi. 10.3390/metabo11120805
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- Publication type:
- Article
Immunological Memory and Affinity Maturation After Vaccination in Patients With Propionic Acidemia.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.774503
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- Publication type:
- Article
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25515-5
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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
Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (<italic>SPINT2</italic>) gene mutations unlikely.
- Published in:
- European Journal of Medical Research, 2018, v. 23, n. 1, p. 1, doi. 10.1186/s40001-018-0312-2
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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
Metabolomic Analyses of Plasma Reveals New Insights into Asphyxia and Resuscitation in Pigs.
- Published in:
- PLoS ONE, 2010, v. 5, n. 3, p. 1, doi. 10.1371/journal.pone.0009606
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- Publication type:
- Article
Predictive validity of attentional functions in differentiating children with and without ADHD: a componential analysis.
- Published in:
- Developmental Medicine & Child Neurology, 2010, v. 52, n. 4, p. 371, doi. 10.1111/j.1469-8749.2009.03560.x
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- Publication type:
- Article
Intra-operative hypoglycemia and electrolyte imbalance in a child with Apert syndrome during craniosynostosis surgery.
- Published in:
- Pediatric Anesthesia, 2014, v. 24, n. 3, p. 352, doi. 10.1111/pan.12344
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- Publication type:
- Article
Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia.
- Published in:
- Amino Acids, 2010, v. 38, n. 5, p. 1473, doi. 10.1007/s00726-009-0356-2
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- Publication type:
- Article
Nitisinone treatment during two pregnancies and breastfeeding in a woman with tyrosinemia type 1 – a case report.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 2, p. 259, doi. 10.1515/jpem-2021-0465
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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.
- Published in:
- Metabolomics, 2020, v. 16, n. 12, p. 1, doi. 10.1007/s11306-020-01741-8
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- Publication type:
- Article
Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 3, doi. 10.1002/jmd2.12169
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- Publication type:
- Article
Targeted metabolomic analysis of serum amino acids in the adult Fontan patient with a dominant left ventricle.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65852-x
- By:
- Publication type:
- Article
Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy.
- Published in:
- 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
Galactose epimerase deficiency: lessons from the GalNet registry.
- Published in:
- 2022
- By:
- Publication type:
- journal article
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Correction to: Lost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
- Published in:
- 2023
- By:
- 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
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome.
- Published in:
- Nature Communications, 2017, v. 8, n. 6, p. 15861, doi. 10.1038/ncomms15861
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- Publication type:
- Article
The COVID‐19 pandemic reduced paediatric emergency department visits but did not significantly increase urgent cases.
- Published in:
- Acta Paediatrica, 2022, v. 111, n. 1, p. 130, doi. 10.1111/apa.16138
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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
- By:
- Publication type:
- journal article
Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 220, doi. 10.1002/jimd.12717
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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.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 144, doi. 10.1002/jimd.12442
- By:
- Publication type:
- Article
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 566, doi. 10.1002/jimd.12370
- By:
- Publication type:
- Article
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 331, doi. 10.1007/s10545-016-9928-y
- By:
- Publication type:
- Article
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 905, doi. 10.1007/s10545-015-9836-6
- By:
- Publication type:
- Article
'Crossing borders' SSIEM 2014 annual symposium in Innsbruck.
- Published in:
- 2015
- By:
- Publication type:
- Editorial
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
- By:
- Publication type:
- Article
Amino acid metabolism in patients with propionic acidaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 65, doi. 10.1007/s10545-010-9245-9
- By:
- Publication type:
- Article
Stereotactic Radiofrequency Ablation for Liver Tumors in Inherited Metabolic Disorders.
- Published in:
- CardioVascular & Interventional Radiology, 2014, v. 37, n. 4, p. 1027, doi. 10.1007/s00270-013-0756-2
- By:
- Publication type:
- Article
SARS‐CoV‐2 infection in a 7‐year‐old girl with pancytopenia during acute lymphocytic leukemia maintenance therapy.
- Published in:
- Pediatric Blood & Cancer, 2020, v. 67, n. 11, p. 1, doi. 10.1002/pbc.28391
- By:
- Publication type:
- Article
Breast-feeding Duration: Early Weaning-Do We Sufficiently Consider the Risk Factors?
- Published in:
- 2015
- By:
- Publication type:
- journal 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.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 9, p. 626, doi. 10.3390/diagnostics10090626
- By:
- Publication type:
- Article