Publications by authors named "Sabine Scholl-Burgi"

80Publications

[Taking Stock: Figures, Data, Facts].

Padiatr Padol 2020 15;55(4):160-161. Epub 2020 Sep 15.

Department für Kinder- und Jugendheilkunde, Universitätsklinik für Pädiatrie I, Bereich Angeborene Stoffwechselstörungen, Medizinische Universität Innsbruck, Anichstraße 35, 6020 Innsbruck, Österreich.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00608-020-00826-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490319PMC
September 2020

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

Eur J Med Genet 2020 Nov 26;63(11):104046. Epub 2020 Aug 26.

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Institute of Human Genetics, Technische Universität München, Munich, Germany; Centre for Rare Diseases, University of Tuebingen, Tübingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2020.104046DOI Listing
November 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.

Diagnostics (Basel) 2020 Aug 24;10(9). Epub 2020 Aug 24.

Austrian Newborn Screening, Division of Pediatric Pulmonology, Allergology and Endocrinology, Department of Pediatrics and Adolescent Medicine, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090 Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/diagnostics10090626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555675PMC
August 2020

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

Ther Adv Chronic Dis 2020 27;11:2040622320916031. Epub 2020 Apr 27.

Center of Pediatric Cardiology and Congenital Heart Disease, Heart and Diabetes Center North Rhine-Westphalia, Ruhr-University of Bochum, Georgstraße, Bad Oeynhausen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/2040622320916031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7222265PMC
April 2020

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

Acta Paediatr 2019 10 29;108(10):1861-1866. Epub 2019 Apr 29.

Clinic for Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/apa.14811DOI Listing
October 2019

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

J Inherit Metab Dis 2019 03 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Impact of the Fontan Operation on Organ Systems.

Cardiovasc Hematol Disord Drug Targets 2019 ;19(3):205-214

Department for Pediatric Cardiology, National Cerebral and Cardiovascular Center, 5-7-1 Fujishiro-dai, Suita, Osaka 565-8565, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2174/1871529X19666190211165124DOI Listing
August 2020

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

Mod Pathol 2019 06 5;32(6):755-763. Epub 2019 Feb 5.

Department of Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41379-019-0201-4DOI Listing
June 2019

Abdominal Pain and Constipation.

Gastroenterology 2019 02 18;156(3):e12-e13. Epub 2018 Sep 18.

Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1053/j.gastro.2018.09.033DOI Listing
February 2019

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

Congenit Heart Dis 2018 Sep 21;13(5):671-677. Epub 2018 Aug 21.

Department of Child and Adolescent Health, Pediatrics I/III, Medical University of Innsbruck, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/chd.12634
Publisher Site
http://dx.doi.org/10.1111/chd.12634DOI Listing
September 2018

Breath profiles of children on ketogenic therapy.

J Breath Res 2018 06 8;12(3):036021. Epub 2018 Jun 8.

Breath Research Institute, University of Innsbruck, Innrain 66, 6020 Innsbruck, Austria. Department of Anesthesia and Intensive Care, Medical University of Innsbruck, Anichstrasse 35, A-6020 Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1088/1752-7163/aac4abDOI Listing
June 2018

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

Pediatr Res 2017 May 31;81(5):787-794. Epub 2017 Jan 31.

Pediatrics II (Neonatology), Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/pr.2017.24DOI Listing
May 2017

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

J Breath Res 2016 Mar 2;10(1):016015. Epub 2016 Mar 2.

Department of Anesthesiology and Intensive Care Medicine, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria. Breath Research Institute, University of Innsbruck, Rathausplatz 4, 6850, Dornbirn, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1088/1752-7155/10/1/016015DOI Listing
March 2016

"Crossing borders" SSIEM 2014 annual symposium in Innsbruck.

J Inherit Metab Dis 2015 Jul;38(4):619

Clinic for Pediatrics I, Inherited Metabolic Diseases, Medical University of Innsbruck , Anichstrasse 35, Innsbruck, 6020, Austria,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-015-9875-zDOI Listing
July 2015

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

J Inherit Metab Dis 2015 Nov;38(6):1157-8

Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
Web Search
http://link.springer.com/10.1007/s10545-015-9868-y
Publisher Site
http://dx.doi.org/10.1007/s10545-015-9868-yDOI Listing
November 2015

ALG8-CDG: novel patients and review of the literature.

Orphanet J Rare Dis 2015 Jun 12;10:73. Epub 2015 Jun 12.

Medical University of Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Anichstrasse 35, 6020, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-015-0289-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504351PMC
June 2015

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

J Pediatr Gastroenterol Nutr 2015 Nov;61(5):577-82

*Clinic for Pediatrics I, Inherited Metabolic Disorders †Department of Neurology, Medical University Innsbruck ‡University of Applied Sciences Tyrol, Midwifery §Clinic for Pediatrics II, Neonatology, Medical University Innsbruck ||Department of Clinical Epidemiology, Tyrolean State Hospitals Ltd, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPG.0000000000000873DOI Listing
November 2015

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

Paediatr Anaesth 2014 Mar;24(3):352-4

Department of Anesthesiology and Critical Care Medicine, Medical University Innsbruck, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pan.12344DOI Listing
March 2014

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

Clin Biochem 2013 Dec 29;46(18):1848-51. Epub 2013 Oct 29.

Division of Biological Chemistry, Biocenter, Medical University, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clinbiochem.2013.10.015DOI Listing
December 2013

Stereotactic radiofrequency ablation for liver tumors in inherited metabolic disorders.

Cardiovasc Intervent Radiol 2014 Aug 23;37(4):1027-33. Epub 2013 Oct 23.

Department of Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00270-013-0756-2DOI Listing
August 2014

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

JIMD Rep 2013 29;10:41-4. Epub 2012 Dec 29.

Department of Medicine II Gastroenterology and Hepatology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2012_199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755566PMC
May 2013

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

Ann Hum Genet 2012 Jul 21;76(4):326-31. Epub 2012 May 21.

Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Human Genetics, Medical University Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1469-1809.2012.00710.xDOI Listing
July 2012

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

Neuropediatrics 2012 Apr 3;43(2):59-63. Epub 2012 Apr 3.

Department of Pediatrics, Division of Neonatology, Neuropediatrics and Inherited Metabolic Disorders, Medical University of Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0032-1307453DOI Listing
April 2012

Amino acid metabolism in patients with propionic acidaemia.

J Inherit Metab Dis 2012 Jan 27;35(1):65-70. Epub 2010 Nov 27.

Department of Paediatrics IV, Division of Neonatology, Neuropaediatrics and Inherited Metabolic Disorders, Innsbruck Medical University, Anichstrasse 35, 6020 Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-010-9245-9DOI Listing
January 2012

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

Hum Mutat 2010 Dec 9;31(12):1280-5. Epub 2010 Nov 9.

Labor für Klinische Biochemie & Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21375DOI Listing
December 2010

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

Dev Med Child Neurol 2010 Apr 5;52(4):371-8. Epub 2010 Jan 5.

Department of Pediatrics IV, Innsbruck Medical University, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1469-8749.2009.03560.xDOI Listing
April 2010

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

Pediatr Neurol 2010 Jan;42(1):21-7

Department of Pediatrics, Division of Neuropediatrics and Inherited Metabolic Disorders, Medical University of Innsbruck, A-6020 Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2009.07.011DOI Listing
January 2010

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

Amino Acids 2010 May 1;38(5):1473-81. Epub 2009 Oct 1.

Division of Neuropediatrics and Inherited Metabolic Disorders, Department of Pediatrics, Innsbruck Medical University, Anichstrasse 35, 6020, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00726-009-0356-2DOI Listing
May 2010

A novel homozygous SLC26A3 nonsense mutation in a Tyrolean girl with congenital chloride diarrhea.

J Pediatr Gastroenterol Nutr 2008 Sep;47(3):363-6

Department of Pediatrics, Medical University, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPG.0b013e318174e818DOI Listing
September 2008

Tolerability of N-chlorotaurine in the bovine mammary gland.

J Dairy Res 2008 May;75(2):248-56

Teaching and Research Farm Kremesberg, University of Veterinary Medicine, Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S0022029908003233DOI Listing
May 2008

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

Pediatrics 2008 Apr 10;121(4):e920-6. Epub 2008 Mar 10.

Division of Neonatology, Neuropediatrics, and Inborn Errors of Metabolism, Innsbruck Medical University, Innsbruck, Austria.

View Article

Download full-text PDF

Source
https://pediatrics.aappublications.org/content/121/4/e920.fu
Web Search
http://dx.doi.org/10.1542/peds.2007-1631DOI Listing
April 2008

Chitotriosidase activity in juvenile idiopathic arthritis.

Rheumatol Int 2008 Jul 7;28(9):949-50. Epub 2008 Mar 7.

Division of Rheumatology, Nephrology, Infectious diseases and Endocrinology, Department of Pediatrics, Innsbruck Medical University, Anichstrasse 35, 6020, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00296-008-0558-zDOI Listing
July 2008

Adiponectin and visfatin concentrations in children treated with valproic acid.

Epilepsia 2008 Feb 6;49(2):353-7. Epub 2007 Dec 6.

Department of Paediatrics IV, Division of Neuropediatrics, Medical University Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1528-1167.2007.01460.xDOI Listing
February 2008

Homozygosity for MECP2 gene in a girl with classical Rett syndrome.

Eur J Med Genet 2007 Nov-Dec;50(6):465-8. Epub 2007 Aug 6.

Clinical Department of Pediatrics, Medical University Innsbruck, Anichstrasse 35, A-6020 Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2007.07.001DOI Listing
March 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

Chitotriosidase as a marker of disease activity in sarcoidosis.

Rheumatol Int 2007 Oct 30;27(12):1171-2. Epub 2007 May 30.

Department of Pediatrics, Innsbruck Medical School, Anichstrasse 35, 6020, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00296-007-0363-0DOI Listing
October 2007

Chitotriosidase as a marker of disease activity in sarcoidosis.

Rheumatol Int 2007 Oct 25;27(12):1185-6. Epub 2007 Jan 25.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00296-007-0318-5DOI Listing
October 2007

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

J Pediatr 2007 Feb;150(2):192-7, 197.e1

Clinical Department of Pediatric Cardiology, Innsbruck Medical University, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2006.11.043DOI Listing
February 2007

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

Am J Med Genet A 2005 Jun;135(3):304-7

Institute of Medical Biology and Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30727DOI Listing
June 2005

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

Nephrol Dial Transplant 2004 Sep;19(9):2394-6

Department of Pediatrics, Medical School Hannover, Hannover, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/ndt/gfh366DOI Listing
September 2004