Publications by authors named "Daniela Karall"

76Publications

[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.

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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.

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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.

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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.

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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.

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

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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.

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

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

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Orphanet J Rare Dis 2018 07 20;13(1):122. Epub 2018 Jul 20.

Department of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Lindwurmstr. 4, 80337, Munich, Germany.

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http://dx.doi.org/10.1186/s13023-018-0875-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053800PMC
July 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.

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

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2018 Jul;41(4):741-742

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital, Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-017-0116-5DOI Listing
July 2018

Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland.

Orphanet J Rare Dis 2017 06 15;12(1):111. Epub 2017 Jun 15.

Division of Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1186/s13023-017-0661-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472961PMC
June 2017

Detection of 6-demethoxyubiquinone in CoQ deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.

Mol Genet Metab 2017 07 20;121(3):216-223. Epub 2017 May 20.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192173010
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http://dx.doi.org/10.1016/j.ymgme.2017.05.012DOI Listing
July 2017

Variable expressivity of TCTEX1D2 mutations and a possible pathogenic link of molar-incisor malformation to ciliary dysfunction.

Arch Oral Biol 2017 Aug 20;80:222-228. Epub 2017 Apr 20.

Department of Operative and Restorative Dentistry, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.archoralbio.2017.04.009DOI Listing
August 2017

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.

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

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

J Inherit Metab Dis 2017 01 16;40(1):75-101. Epub 2016 Nov 16.

Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://link.springer.com/10.1007/s10545-016-9999-9
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http://dx.doi.org/10.1007/s10545-016-9999-9DOI Listing
January 2017

Breast milk feeding in infants with inherited metabolic disorders other than phenylketonuria - a 10-year single-center experience.

J Perinat Med 2017 Apr;45(3):375-382

University Hospital Innsbruck, Department of Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Anichstrasse. 35, A-6020 Innsbruck.

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https://www.degruyter.com/view/j/jpme.ahead-of-print/jpm-201
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http://dx.doi.org/10.1515/jpm-2016-0205DOI Listing
April 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.

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

Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2016 05 21;39(3):341-353. Epub 2015 Dec 21.

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-015-9907-8DOI Listing
May 2016

A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis--The Austrian experience.

Muscle Nerve 2015 Sep 24;52(3):437-9. Epub 2015 Jul 24.

Department of Pediatrics, Clinic for Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, A-6020, Innsbruck, Austria.

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http://dx.doi.org/10.1002/mus.24749DOI Listing
September 2015

"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,

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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.

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http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
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http://link.springer.com/10.1007/s10545-015-9868-y
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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.

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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.

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

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,

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

Glucose transporter type 1 deficiency syndrome effectively treated with modified Atkins diet.

Neuropediatrics 2014 Apr 25;45(2):117-9. Epub 2013 Jul 25.

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

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http://dx.doi.org/10.1055/s-0033-1349225DOI Listing
April 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.

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

Early sudden unexpected death in infancy (ESUDI)--three case reports and review of the literature.

Acta Paediatr 2013 May 31;102(5):e235-8. Epub 2013 Jan 31.

Division of Neonatology, Department of Pediatrics, Innsbruck Medical University, Innsbruck, Austria.

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http://dx.doi.org/10.1111/apa.12165DOI Listing
May 2013

Recurrent somnolence in a 17-month-old infant: late-onset ornithine transcarbamylase (OTC) deficiency due to the novel hemizygous mutation c.535C > T (p.Leu179Phe).

Eur J Paediatr Neurol 2013 Jan 20;17(1):112-5. Epub 2012 Jun 20.

Dep. of Pediatrics, Hospital St. Vinzenz, Sanatoriumstrasse 43, 6511 Zams, Austria.

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http://dx.doi.org/10.1016/j.ejpn.2012.05.007DOI Listing
January 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.

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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.

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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.

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

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.

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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.

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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.

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

The enigmatic role of tafazzin in cardiolipin metabolism.

Biochim Biophys Acta 2009 Oct 18;1788(10):2003-14. Epub 2009 Jul 18.

University of Amsterdam, Academic Medical Center, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbamem.2009.07.009DOI Listing
October 2009

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.

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

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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.

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

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.

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