List of works - Sabine Scholl-Bürgi

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

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

scientific article

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

scientific article

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

scientific article published on 15 April 2015

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

scientific article published on 15 April 2015

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

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

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

scientific article published on 10 January 2013

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

scientific article

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

scientific article

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

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

scientific article

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

scientific article published on 01 February 2007

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

scientific article

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

scientific article

Propionic acidemia: neonatal versus selective metabolic screening

scientific article published on 02 December 2011

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

scientific article published on 10 March 2008

Propionic acidemia: unusual course with late onset and fatal outcome

scientific article

Amino acid metabolism in patients with propionic acidaemia

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

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

scientific article

Neonatal screening for citrullinaemia

scientific article published on 8 April 2003

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

scientific article

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

scientific article

Mutation analysis in 54 propionic acidemia patients

scientific article

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

scientific article

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

scientific article

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

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

Ketogenic diets in patients with inherited metabolic disorders.

scientific article published on 25 June 2015

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

scientific article published on 5 January 2010

ALG8-CDG: novel patients and review of the literature

scientific article

Epilepsy in patients with propionic acidemia

scientific article published on June 2009

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

scientific article published in April 2009

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

scientific article published on October 2009

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

scientific article published on 9 November 2010

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

scientific article published in January 2010

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)

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

Chitotriosidase activity in juvenile idiopathic arthritis

scientific article published on 7 March 2008

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

scientific article published on 6 December 2008

Chitotriosidase as a marker of disease activity in sarcoidosis

scientific article published on 25 January 2007

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

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

scientific article published on 29 December 2012

Tolerability of inhaled N-chlorotaurine in the pig model

scientific article published on 14 July 2009

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

Adiponectin and visfatin concentrations in children treated with valproic acid.

scientific article published on 6 December 2007

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

scientific article published on 01 November 2015

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

scientific article

List of works by Sabine Scholl-Bürgi

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Propionic acidemia: neonatal versus selective metabolic screening

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

Propionic acidemia: unusual course with late onset and fatal outcome

Amino acid metabolism in patients with propionic acidaemia

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

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

Neonatal screening for citrullinaemia

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

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

Mutation analysis in 54 propionic acidemia patients

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

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

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

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

Ketogenic diets in patients with inherited metabolic disorders.

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

ALG8-CDG: novel patients and review of the literature

Epilepsy in patients with propionic acidemia

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

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

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

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

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

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

Chitotriosidase activity in juvenile idiopathic arthritis

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

Chitotriosidase as a marker of disease activity in sarcoidosis

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

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

Tolerability of inhaled N-chlorotaurine in the pig model

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

Adiponectin and visfatin concentrations in children treated with valproic acid.

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

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

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