Lista de obras - Sabine Scholl-Bürgi - Dominio Público Uruguay

"Crossing borders" SSIEM 2014 annual symposium in Innsbruck

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

ALG8-CDG: novel patients and review of the literature

artículo científico publicado en 2015

Abdominal Pain and Constipation

artículo científico publicado en 2018

Adiponectin and visfatin concentrations in children treated with valproic acid.

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

Amino acid metabolism in patients with propionic acidaemia

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

Breath profiles of children on ketogenic therapy

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

Chitotriosidase activity in juvenile idiopathic arthritis

artículo científico publicado en 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.

artículo científico publicado en 2013

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

artículo científico publicado en 2007

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado el 29 de septiembre de 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2020

Epilepsy in patients with propionic acidemia

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2019

Homozygosity for MECP2 gene in a girl with classical Rett syndrome

artículo científico publicado en 2007

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

Ketogenic diets in patients with inherited metabolic disorders.

artículo científico

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

artículo científico publicado en 2016

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

artículo científico publicado en 2004

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado el 10 de enero de 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Mutation analysis in 54 propionic acidemia patients

artículo científico publicado en 2011

Neonatal screening for citrullinaemia

artículo científico publicado en 2003

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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 2020

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2013

Propionic acidemia: neonatal versus selective metabolic screening

artículo científico publicado en 2011

Propionic acidemia: unusual course with late onset and fatal outcome

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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 ⬇️

artículo científico publicado el 26 de abril de 2013

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

artículo científico publicado en 2013

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Stereotactic radiofrequency ablation for liver tumors in inherited metabolic disorders

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2014

Tolerability of N-chlorotaurine in the bovine mammary gland.

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2018

Tolerability of inhaled N-chlorotaurine in the pig model

artículo científico publicado en 2009

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

artículo científico publicado en 2012

[Taking Stock: Figures, Data, Facts]

scientific article published on 15 September 2020

Lista de obras de Sabine Scholl-Bürgi

"Crossing borders" SSIEM 2014 annual symposium in Innsbruck

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

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

ALG8-CDG: novel patients and review of the literature

Abdominal Pain and Constipation

Adiponectin and visfatin concentrations in children treated with valproic acid.

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

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

Amino acid metabolism in patients with propionic acidaemia

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

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

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

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

Breath profiles of children on ketogenic therapy

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

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

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

Chitotriosidase activity in juvenile idiopathic arthritis

Chitotriosidase as a marker of disease activity in sarcoidosis

Chitotriosidase as a marker of disease activity in sarcoidosis

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

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Epilepsy in patients with propionic acidemia

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

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

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

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

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

Galactokinase deficiency: lessons from the GalNet registry

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

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

Homozygosity for MECP2 gene in a girl with classical Rett syndrome

Impact of the Fontan Operation on Organ Systems

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

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

Ketogenic diets in patients with inherited metabolic disorders.

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

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

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

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

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

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

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

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

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

Mutation analysis in 54 propionic acidemia patients

Neonatal screening for citrullinaemia

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

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

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

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

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

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

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

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

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

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

Propionic acidemia: neonatal versus selective metabolic screening

Propionic acidemia: unusual course with late onset and fatal outcome

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

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

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

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