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List of works by Sabine Scholl-Bürgi

"Crossing borders" SSIEM 2014 annual symposium in Innsbruck

scientific article published in July 2015

3-Heptanone as a potential new marker for valproic acid therapy.

scientific article

A Novel Homozygous SLC26A3 Nonsense Mutation in a Tyrolean Girl With Congenital Chloride Diarrhea

ALG8-CDG: novel patients and review of the literature

scientific article

Abdominal Pain and Constipation

scientific article published on 18 September 2018

Adiponectin and visfatin concentrations in children treated with valproic acid.

scientific article published on 6 December 2007

Adrenocorticotropic hormone versus pulsatile dexamethasone in the treatment of infantile epilepsy syndromes

scientific article published in January 2010

Amino acid cerebrospinal fluid/plasma ratios in children: influence of age, gender, and antiepileptic medication

scientific article published on 10 March 2008

Amino acid metabolism in patients with propionic acidaemia

scientific article

Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency

scientific article published on 6 December 2008

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach

scientific article published on 30 September 2016

Breast-feeding Duration: Early Weaning-Do We Sufficiently Consider the Risk Factors?

scientific article published on 25 May 2015

Breath acetone-aspects of normal physiology related to age and gender as determined in a PTR-MS study

scientific article

Breath profiles of children on ketogenic therapy

scientific article published on 08 June 2018

CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome ⬇️

scientific article

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

scientific article

Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia

scientific article published on October 2009

Chitotriosidase activity in juvenile idiopathic arthritis

scientific article published on 7 March 2008

Chitotriosidase as a marker of disease activity in sarcoidosis

scientific article published on 25 January 2007

Chitotriosidase as a marker of disease activity in sarcoidosis

scientific article published on 30 May 2007

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.

scientific article

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation

scientific article published on 20 March 2020

Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).

scientific article published on 22 February 2015

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.

scientific article

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

scientific article published on 14 April 2015

Comparative Serum Analyses Identify Cytokines and Hormones Commonly Dysregulated as Well as Implicated in Promoting Osteolysis in MMP-2-Deficient Mice and Children

scientific article published on 25 September 2020

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

scientific article published on 26 May 2020

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

scientific article published on 05 August 2020

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

scientific article

Cytotoxic not Vasogenic Edema is the Cause for Stroke-Like Episodes in Propionic Acidemia ⬇️

scientific article published on September 29, 2011

D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK).

scientific article published on 9 November 2010

Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl

scientific article published in June 2005

Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism

scientific article published in March 2017

Diagnosing lactose malabsorption in children: difficulties in interpreting hydrogen breath test results

scientific article

Effect of valproic acid treatment on body composition, leptin and the soluble leptin receptor in epileptic children.

scientific article published on 9 May 2008

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

scientific article published on 06 January 2020

Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns

scientific article published on 24 August 2020

Epilepsy in patients with propionic acidemia

scientific article published on June 2009

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

scientific article published on 29 April 2016

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

scientific article published on 01 November 2015

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

scientific article published on 01 November 2015

Former very preterm infants show alterations in plasma amino acid profiles at a preschool age.

scientific article published on 31 January 2017

Frenotomy for tongue-tie (frenulum linguae breve) showed improved symptoms in the short- and long-term follow-up

scientific article published on 29 April 2019

Galactokinase deficiency: lessons from the GalNet registry

scientific article published on 18 August 2020

Gyrate Atrophy in 2 Siblings - Ophthalmological Findings and A New Mutation

scientific article published on 10 August 2015

Highly Elevated Plasma γ-Glutamyltransferase Elevations: A Trait Caused by γ-Glutamyltransferase 1 Transmembrane Mutations

scientific article published on 28 October 2019

Homozygosity for MECP2 gene in a girl with classical Rett syndrome

scientific article

Impact of the Fontan Operation on Organ Systems

scientific article published on 01 January 2019

Intra-operative hypoglycemia and electrolyte imbalance in a child with Apert syndrome during craniosynostosis surgery

scientific article published in March 2014

Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely.

scientific article

Ketogenic diets in patients with inherited metabolic disorders.

scientific article published on 25 June 2015

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

scientific article published on 18 March 2016

Long-term outcome of renal glucosuria type 0: the original patient and his natural history

scientific article

Low sodium status in cystic fibrosis-as assessed by calculating fractional Na(+) excretion-is associated with decreased growth parameters

scientific article published on 6 January 2016

MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation

scientific article published on 29 December 2012

Matrix-metalloproteinases and proinflammatory cytokines in children with febrile convulsions and epilepsy—Cause or consequence? ⬇️

scientific article published on January 10, 2013

Metabolomic analyses of plasma reveals new insights into asphyxia and resuscitation in pigs

scientific 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

scientific article published on 15 December 2020

Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon)

scientific article published on 21 August 2018

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

scientific article

Mutation analysis in 54 propionic acidemia patients

scientific article

Neonatal screening for citrullinaemia

scientific article published on 8 April 2003

Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy

scientific article

Outcome in patients with profound biotinidase deficiency: relevance of newborn screening

scientific article

Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches

scientific article published on 25 August 2020

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

scientific article published on 17 February 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

scientific article published on 3 September 2018

Predictive validity of attentional functions in differentiating children with and without ADHD: a componential analysis

scientific article published on 5 January 2010

Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders.

scientific article published on 28 March 2018

Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients

scientific article published on 25 April 2012

Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia

scientific article published on 01 February 2007

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

scientific article published on 10 January 2013

Propionic acidemia: neonatal versus selective metabolic screening

scientific article published on 02 December 2011

Propionic acidemia: unusual course with late onset and fatal outcome

scientific article

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

scientific article

Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene

scientific article

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

scientific article published on 08 November 2019

SARS-CoV-2 infection in a 7-year-old girl with pancytopenia during acute lymphocytic leukemia maintenance therapy

scientific article published on 11 August 2020

Seltene Krankheiten: Angeborene Stoffwechselstörungen im Kinder- und Jugendalter

article by Daniela Karall & Sabine Scholl-Bürgi published 26 September 2017 in Padiatrie und Padologie

Severe anemia in 3 toddlers with gastric lactobezoar ⬇️

scientific article published on April 26, 2013

Simultaneous measurement of phenylalanine and tyrosine by high performance liquid chromatography (HPLC) with fluorescence detection

scientific article

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

scientific article

Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment

scientific article

Stereotactic radiofrequency ablation for liver tumors in inherited metabolic disorders

scientific article published on 23 October 2013

Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation

scientific article published in April 2009

Targeted metabolomic analysis of serum amino acids in the adult Fontan patient with a dominant left ventricle

scientific article published on 02 June 2020

Targeted metabolomic analysis of serum phospholipid and acylcarnitine in the adult Fontan patient with a dominant left ventricle

scientific article published on 27 April 2020

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

scientific article

The Genetic Landscape and Epidemiology of Phenylketonuria

scientific article published on 01 July 2020

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

scientific article (publication date: December 2016)

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

scientific article published on 15 April 2015

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

scientific article published on 15 April 2015

The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a 'ketotic hyperglycinaemia'.

scientific article published on 4 April 2008

The value of axillary skin electron microscopic analysis in the diagnosis of lysosomal storage disorders

scientific article published on 05 February 2019

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

scientific article

Tolerability of N-chlorotaurine in the bovine mammary gland.

scientific article published in May 2008

Tolerability of inhaled N-chlorotaurine in an acute pig streptococcal lower airway inflammation model

scientific article

Tolerability of inhaled N-chlorotaurine in humans: a double-blind randomized phase I clinical study.

scientific article

Tolerability of inhaled N-chlorotaurine in the pig model

scientific article published on 14 July 2009

Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol

scientific article

[Taking Stock: Figures, Data, Facts]

scientific article published on 15 September 2020

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