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1

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

Niedermayr, Katharina, Pölzl, Gerhard, Scholl-Bürgi, Sabine, Fauth, Christine, Schweigmann, Ulrich, Haberlandt, Edda, Albrecht, Ursula, Zlamy, Manuela, Sperl, Wolfgang, Mayr, Johannes A., Karall, Dani

Journal:

Congenital Heart Disease

Year:

2018

Language:

english

File:

PDF, 651 KB

english, 2018

2

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

Huemer, Martina, Carvalho, Daniel R., Brum, Jaime M., Ünal, Özlem, Coskun, Turgay, Weisfeld-Adams, James D., Schrager, Nina L., Scholl-Bürgi, Sabine, Schlune, Andrea, Donner, Markus G., Hersberger, Ma

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 328 KB

english, 2016

3

„Floppy infant“ mit besonderem Aussehen und Apnoen

Dr. K. Niedermayr, S. Scholl-Bürgi, U. Albrecht, R. Strobl, F. Müller, K. Maurer, K. Freund-Unsinn, E. Griesmaier, M. Baumann, D. Karall

Journal:

Monatsschrift Kinderheilkunde

Year:

2012

Language:

german

File:

PDF, 600 KB

german, 2012

4

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

Karall, Daniela, Brunner-Krainz, Michaela, Kogelnig, Katharina, Konstantopoulou, Vassiliki, Maier, Esther M, Möslinger, Dorothea, Plecko, Barbara, Sperl, Wolfgang, Volkmar, Barbara, Scholl-Bürgi, Sabi

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 654 KB

english, 2015

5

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

Schwarz, K, Pizzini, A, Arendacká, B, Zerlauth, K, Filipiak, W, Schmid, A, Dzien, A, Neuner, S, Lechleitner, M, Scholl-Bürgi, S

Journal:

Journal of Breath Research

Year:

2009

Language:

english

File:

PDF, 266 KB

english, 2009

6

Verwendung von Kuhmilch im Säuglingsalter

Hauer, A.C., Haiden, N., Hoffmann, K.-M., Pietschnig, B., Repa, A., Pollak, A., Rock, I., Scholl-Bürgi, S., Karall, D., Sperl, W., Weghuber, D., Zwiauer, K.

Journal:

Monatsschrift Kinderheilkunde

Year:

2014

Language:

german

File:

PDF, 263 KB

german, 2014

7

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

Huemer, Martina, Scholl-Bürgi, Sabine, Hadaya, Karine, Kern, Ilse, Beer, Ronny, Seppi, Klaus, Fowler, Brian, Baumgartner, Matthias R, Karall, Daniela

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 431 KB

english, 2014

8

Früherkennung von Kindesmisshandlung

Kapelari, K., Scholl-Bürgi, S., Lips, U., Herrmann, B.

Journal:

Monatsschrift Kinderheilkunde

Year:

2016

Language:

german

File:

PDF, 1.64 MB

german, 2016

9

ALG8-CDG: novel patients and review of the literature

Höck, Michaela, Wegleiter, Karina, Ralser, Elisabeth, Kiechl-Kohlendorfer, Ursula, Scholl-Bürgi, Sabine, Fauth, Christine, Steichen, Elisabeth, Pichler, Karin, Lefeber, Dirk J., Matthjis, Gert, Kelder

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 3.59 MB

english, 2015

10

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

Sabine Scholl-Bürgi, Jörn Oliver Sass, Peter Heinz-Erian, Edda Amann, Edda Haberlandt, Ursula Albrecht, Claudia Ertl, Sara Baumgartner Sigl, Florian Lagler, Kevin Rostasy, Daniela Karall

Journal:

Year:

2010

Language:

english

File:

PDF, 419 KB

english, 2010

11

Amino Acid Cerebrospinal Fluid/Plasma Ratios in Children: Influence of Age, Gender, and Antiepileptic Medication

Scholl-Burgi, S., Haberlandt, E., Heinz-Erian, P., Deisenhammer, F., Albrecht, U., Sigl, S. B., Rauchenzauner, M., Ulmer, H., Karall, D.

Journal:

Year:

2008

Language:

english

File:

PDF, 119 KB

english, 2008

12

Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders

Kuseyri, O., Weissbach, A., Bruggemann, N., Klein, C., Giżewska, M., Karall, D., Scholl-Bürgi, S., Romanowska, H., Krzywińska-Zdeb, E., Monavari, A. A., Knerr, I., Yapıcı, Z., Leuzzi, V., Opladen, T.

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 540 KB

english, 2018

13

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

Niederwanger, Christian, Lechner, Silvia, König, Lisa, Janecke, Andreas R., Pototschnig, Claus, Häussler, Beatrice, Scholl-Bürgi, Sabine, Müller, Thomas, Heinz-Erian, Peter

Journal:

European Journal of Medical Research

Year:

2018

Language:

english

File:

PDF, 756 KB

english, 2018

14

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

M. Rauchenzauner, E. Haberlandt, S. Scholl-Bürgi, D. Karall, E. Schoenherr, T. Tatarczyk, J. Engl, M. Laimer, G. Luef, C.F. Ebenbichler

Journal:

Epilepsy Research

Year:

2008

Language:

english

File:

PDF, 193 KB

english, 2008

15

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

Zlamy, Manuela, Hofstätter, Justina, Albrecht, Ursula, Baumgartner, Sara, Haberlandt, Edda, Scholl-Bürgi, Sabine, Guntersweiler, Doris, Reinehr, Michael, Mihic-Probst, Daniela, Karall, Daniela

Journal:

Modern Pathology

Year:

2019

Language:

english

File:

PDF, 2.20 MB

english, 2019

16

Chitotriosidase activity in juvenile idiopathic arthritis

Jürgen K. H. Brunner, Sabine Scholl-Bürgi, David Hössinger, Petra Wondrak, Martina Prelog, Lothar-Bernd Zimmerhackl

Journal:

Rheumatology International

Year:

2008

Language:

english

File:

PDF, 211 KB

english, 2008

17

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

LIANE KAUFMANN, NIKOLA ZIEREN, SIBYLLE ZOTTER, DANIELA KARALL, SABINE SCHOLL-BÜRGI, EDDA HABERLANDT, BRUNO FIMM

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 408 KB

english, 2010

18

Chronic Immune Stimulation May Cause Moderate Impairment of Phenylalanine 4-hydroxylase

Scholl-Bürgi, S, Schroecksnadel, S, Jenny, M, Karall, D, Fuchs, D

Journal:

Year:

2011

Language:

english

File:

PDF, 109 KB

english, 2011

19

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

Bürgi, Jérôme, Kunz, Béatrice, Abrami, Laurence, Deuquet, Julie, Piersigilli, Alessandra, Scholl-Bürgi, Sabine, Lausch, Ekkehart, Unger, Sheila, Superti-Furga, Andrea, Bonaldo, Paolo, van der Goot, F.

Journal:

Nature Communications

Year:

2017

Language:

english

File:

PDF, 5.70 MB

english, 2017

20

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

Jörn Oliver Sass, Kathleen Fischer, Raymond Wang, Ernst Christensen, Sabine Scholl-Bürgi, Richard Chang, Klaus Kapelari, Melanie Walter

Journal:

Year:

2010

Language:

english

File:

PDF, 310 KB

english, 2010

21

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

Sara Baumgartner-Sigl, Edda Haberlandt, Steven Mumm, Sabine Scholl-Bürgi, Consolato Sergi, Lawrence Ryan, Karen L. Ericson, Michael P. Whyte, Wolfgang Högler

Journal:

Year:

2007

Language:

english

File:

PDF, 292 KB

english, 2007

22

Unrecognized Citrullinemia Mimicking Encephalitis in a 14-Year-Old Boy: Unexpected Result Through the Use of a Standardized Lumbar Puncture Protocol

Karall, Daniela, Haberlandt, Edda, Albrecht, Ursula, Rostasy, Kevin, Häberle, Johannes, Scholl-Bürgi, Sabine

Journal:

Neuropediatrics

Year:

2012

Language:

english

File:

PDF, 411 KB

english, 2012

23

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

S. Scholl-Bürgi, S. Baumgartner Sigl, J. Häberle, E. Haberlandt, K. Rostásy, C. Ertl, U. Eichinger-Öttl, P. Heinz-Erian, D. Karall

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 122 KB

english, 2008

24

Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy

E. Haberlandt, S. Scholl-Bürgi, J. Neuberger, S. Felber, T. Gotwald, R. Sauter, K. Rostasy, D. Karall, R. Korinthenberg

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 678 KB

english, 2009

25

Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy

Birgit Krabichler, Kevin Rostasy, Matthias Baumann, Daniela Karall, Sabine Scholl-Bürgi, Christoph Schwarzer, Kurt Gautsch, Ana Spreiz, Dieter Kotzot, Johannes Zschocke, Christine Fauth, Edda Haberlan

Journal:

Annals of Human Genetics

Year:

2012

Language:

english

File:

PDF, 973 KB

english, 2012

26

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

Sterl, Elisabeth, Paul, Karl, Paschke, Eduard, Zschocke, Johannes, Brunner-Krainz, Michaela, Windisch, Eva, Konstantopoulou, Vassiliki, Möslinger, Dorothea, Karall, Daniela, Scholl-Bürgi, Sabine, Sper

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 236 KB

english, 2013

27

“Crossing borders” SSIEM 2014 annual symposium in Innsbruck

Karall, Daniela, Scholl-Bürgi, Sabine, Zschocke, Johannes

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 177 KB

english, 2015

28

Abdominal Pain and Constipation

Härter, Bettina, Scholl-Bürgi, Sabine

Journal:

Gastroenterology

Year:

2018

File:

PDF, 564 KB

2018

29

Breast-feeding Duration

Karall, Daniela, Ndayisaba, Jean-Pierre, Heichlinger, Angelika, Kiechl-Kohlendorfer, Ursula, Stojakovic, Sarah, Leitner, Hermann, Scholl-Bürgi, Sabine

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2015

Language:

english

File:

PDF, 227 KB

english, 2015

30

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

Hochhold, Christoph, Luckner, Günter, Strohmenger, Ulrich, Scholl-Bürgi, Sabine, Paal, Peter

Journal:

Pediatric Anesthesia

Year:

2014

Language:

english

File:

PDF, 237 KB

english, 2014

31

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

Brea-Calvo, Gloria, Haack, Tobias B., Karall, Daniela, Ohtake, Akira, Invernizzi, Federica, Carrozzo, Rosalba, Kremer, Laura, Dusi, Sabrina, Fauth, Christine, Scholl-Bürgi, Sabine, Graf, Elisabeth, Ah

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 644 KB

english, 2015

32

Severe Anemia in 3 Toddlers with Gastric Lactobezoar

Klein-Franke, A., Kropshofer, G., Gassner, I., Meister, B., Salvador, C., Scholl-Bürgi, S., Mueller, T., Heinz-Erian, P.

Journal:

Klinische Pädiatrie

Year:

2013

File:

PDF, 266 KB

2013

33

Decreased Urinary Sodium-to-urinary Creatinine Ratio Identifies Sodium Depletion in Pediatric Acute Gastroenteritis

Heinz-Erian, P., Akdar, Z., Haerter, B., Waldegger, S., Giner, T., Scholl-Bürgi, S., Mueller, T.

Journal:

Klinische Pädiatrie

Year:

2015

File:

PDF, 303 KB

2015

34

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

Spreiz, A., Haberlandt, E., Baumann, M., Baumgartner Sigl, S., Fauth, C., Gautsch, K., Karall, D., Janetschek, C., Rostasy, K., Scholl-Bürgi, S., Zotter, S., Utermann, G., Zschocke, J., Kotzot, D.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 671 KB

english, 2014

35

Chitotriosidase as a marker of disease activity in sarcoidosis

Jürgen Brunner, Sabine Scholl-Bürgi, Lothar-Bernd Zimmerhackl

Journal:

Rheumatology International

Year:

2007

Language:

english

File:

PDF, 147 KB

english, 2007

36

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

Heinz-Erian, Peter, Oberauer, Michaela, Neu, Nikolaus, Müller, Thomas, Scholl-Bürgi, Sabine, Hager, Josef, Pittschieler, Klaus, Janecke, Andreas R

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2008

Language:

english

File:

PDF, 152 KB

english, 2008

37

Amino acid metabolism in patients with propionic acidaemia

Sabine Scholl-Bürgi, Jörn Oliver Sass, Johannes Zschocke, Daniela Karall

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 136 KB

english, 2012

38

Pearson-Syndrom; Pearsonʼs syndrome;

Zöggeler, T., Scholl-Bürgi, S., Kropshofer, G., Geiger, R., Mayr, J. A., Zlamy, M., Maurer, K., Karall, D.

Journal:

Monatsschrift Kinderheilkunde

Year:

2018

Language:

german

File:

PDF, 1.19 MB

german, 2018

39

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

Arnitz, Roland, Stein, Markus, Bauer, Petra, Lanthaler, Barbara, Jamnig, Herbert, Scholl-Bürgi, Sabine, Stempfl-Al-Jazrawi, Katharina, Ulmer, Hanno, Baumgartner, Bernhard, Embacher, Sabine, Geisler, S

Journal:

Therapeutic Advances in Respiratory Disease

Year:

2018

Language:

english

File:

PDF, 454 KB

english, 2018

40

Abnormes Schädelwachstum

Rittinger, O., Karall, D., Scholl-Bürgi, S.

Journal:

Pädiatrie & Pädologie

Year:

2015

Language:

german

File:

PDF, 623 KB

german, 2015

41

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

D. Karall, E. Haberlandt, M. Schimmel, M. Schocke, K. Gautsch, U. Albrecht, S. Baumgartner Sigl, S. Scholl-bürgi

Year:

2011

Language:

english

File:

PDF, 154 KB

english, 2011

42

Chronic Immune Stimulation Correlates with Reduced Phenylalanine Turnover

Neurauter, G., Schrocksnadel, K., Scholl-Burgi, S., Sperner-Unterweger, B., Schubert, C., Ledochowski, M., Fuchs, D.

Journal:

Current Drug Metabolism

Year:

2008

Language:

english

File:

PDF, 216 KB

english, 2008

43

Adiponectin and visfatin concentrations in children treated with valproic acid

Markus Rauchenzauner, Edda Haberlandt, Sabine Scholl-Bürgi, Barbara Ernst, Fritz Hoppichler, Daniela Karall, Christoph F. Ebenbichler, Kevin Rostasy, Gerhard Luef

Journal:

Year:

2008

Language:

english

File:

PDF, 114 KB

english, 2008

44

Prolonged QTc Intervals and Decreased Left Ventricular Contractility in Patients with Propionic Acidemia

Daniela Baumgartner, Sabine Scholl-Bürgi, Jörn Oliver Sass, Wolfgang Sperl, Ulrich Schweigmann, Jörg-Ingolf Stein, Daniela Karall

Journal:

The Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 335 KB

english, 2007

45

Chitotriosidase as a marker of disease activity in sarcoidosis

Jürgen Brunner, Sabine Scholl-Bürgi, Martina Prelog, Lothar-Bernd Zimmerhackl

Journal:

Rheumatology International

Year:

2007

Language:

english

File:

PDF, 145 KB

english, 2007

46

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

Michel, M., Blatsios, G., Scholl-Bürgi, S., Entenmann, A., Wernstedt, A., Zschocke, A., Pichler, K., Höller, A., Karall, D.

Journal:

Klinische Pädiatrie

Year:

2015

Language:

english

File:

PDF, 446 KB

english, 2015

47

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

Niedermayr, Katharina, Pölzl, Gerhard, Scholl-Bürgi, Sabine, Fauth, Christine, Schweigmann, Ulrich, Haberlandt, Edda, Albrecht, Ursula, Zlamy, Manuela, Sperl, Wolfgang, Mayr, Johannes A., Karall, Dani

Journal:

Congenital Heart Disease

Year:

2018

File:

PDF, 651 KB

2018

48

Epilepsy in Patients with Propionic Acidemia

Haberlandt, E., Canestrini, C., Brunner-Krainz, M., Möslinger, D., Mussner, K., Plecko, B., Scholl-Bürgi, S., Sperl, W., Rostásy, K., Karall, D.

Journal:

Neuropediatrics

Year:

2009

Language:

english

File:

PDF, 223 KB

english, 2009

49

Adrenocorticotropic Hormone versus Pulsatile Dexamethasone in the Treatment of Infantile Epilepsy Syndromes

Edda Haberlandt, Christine Weger, Sara Baumgartner Sigl, Markus Rauchenzauner, Sabine Scholl-Bürgi, Kevin Rostásy, Daniela Karall

Journal:

Pediatric Neurology

Year:

2010

Language:

english

File:

PDF, 199 KB

english, 2010

50

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

Neurauter, Gabriele, Scholl-Bürgi, Sabine, Haara, Astrid, Geisler, Simon, Mayersbach, Peter, Schennach, Harald, Fuchs, Dietmar

Journal:

Clinical Biochemistry

Year:

2013

Language:

english

File:

PDF, 484 KB

english, 2013

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